NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (14 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000019251.30

Allele description [Variation Report for NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)]

NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)

Other names:

p.R841W:CGG>TGG

HGVS:

NC_000017.11:g.43093010G>A
NG_005905.2:g.124974C>T
NM_001407571.1:c.2308C>T
NM_001407581.1:c.2521C>T
NM_001407582.1:c.2521C>T
NM_001407583.1:c.2521C>T
NM_001407585.1:c.2521C>T
NM_001407587.1:c.2518C>T
NM_001407590.1:c.2518C>T
NM_001407591.1:c.2518C>T
NM_001407593.1:c.2521C>T
NM_001407594.1:c.2521C>T
NM_001407596.1:c.2521C>T
NM_001407597.1:c.2521C>T
NM_001407598.1:c.2521C>T
NM_001407602.1:c.2521C>T
NM_001407603.1:c.2521C>T
NM_001407605.1:c.2521C>T
NM_001407610.1:c.2518C>T
NM_001407611.1:c.2518C>T
NM_001407612.1:c.2518C>T
NM_001407613.1:c.2518C>T
NM_001407614.1:c.2518C>T
NM_001407615.1:c.2518C>T
NM_001407616.1:c.2521C>T
NM_001407617.1:c.2521C>T
NM_001407618.1:c.2521C>T
NM_001407619.1:c.2521C>T
NM_001407620.1:c.2521C>T
NM_001407621.1:c.2521C>T
NM_001407622.1:c.2521C>T
NM_001407623.1:c.2521C>T
NM_001407624.1:c.2521C>T
NM_001407625.1:c.2521C>T
NM_001407626.1:c.2521C>T
NM_001407627.1:c.2518C>T
NM_001407628.1:c.2518C>T
NM_001407629.1:c.2518C>T
NM_001407630.1:c.2518C>T
NM_001407631.1:c.2518C>T
NM_001407632.1:c.2518C>T
NM_001407633.1:c.2518C>T
NM_001407634.1:c.2518C>T
NM_001407635.1:c.2518C>T
NM_001407636.1:c.2518C>T
NM_001407637.1:c.2518C>T
NM_001407638.1:c.2518C>T
NM_001407639.1:c.2521C>T
NM_001407640.1:c.2521C>T
NM_001407641.1:c.2521C>T
NM_001407642.1:c.2521C>T
NM_001407644.1:c.2518C>T
NM_001407645.1:c.2518C>T
NM_001407646.1:c.2512C>T
NM_001407647.1:c.2512C>T
NM_001407648.1:c.2398C>T
NM_001407649.1:c.2395C>T
NM_001407652.1:c.2521C>T
NM_001407653.1:c.2443C>T
NM_001407654.1:c.2443C>T
NM_001407655.1:c.2443C>T
NM_001407656.1:c.2443C>T
NM_001407657.1:c.2443C>T
NM_001407658.1:c.2443C>T
NM_001407659.1:c.2440C>T
NM_001407660.1:c.2440C>T
NM_001407661.1:c.2440C>T
NM_001407662.1:c.2440C>T
NM_001407663.1:c.2443C>T
NM_001407664.1:c.2398C>T
NM_001407665.1:c.2398C>T
NM_001407666.1:c.2398C>T
NM_001407667.1:c.2398C>T
NM_001407668.1:c.2398C>T
NM_001407669.1:c.2398C>T
NM_001407670.1:c.2395C>T
NM_001407671.1:c.2395C>T
NM_001407672.1:c.2395C>T
NM_001407673.1:c.2395C>T
NM_001407674.1:c.2398C>T
NM_001407675.1:c.2398C>T
NM_001407676.1:c.2398C>T
NM_001407677.1:c.2398C>T
NM_001407678.1:c.2398C>T
NM_001407679.1:c.2398C>T
NM_001407680.1:c.2398C>T
NM_001407681.1:c.2398C>T
NM_001407682.1:c.2398C>T
NM_001407683.1:c.2398C>T
NM_001407684.1:c.2521C>T
NM_001407685.1:c.2395C>T
NM_001407686.1:c.2395C>T
NM_001407687.1:c.2395C>T
NM_001407688.1:c.2395C>T
NM_001407689.1:c.2395C>T
NM_001407690.1:c.2395C>T
NM_001407691.1:c.2395C>T
NM_001407692.1:c.2380C>T
NM_001407694.1:c.2380C>T
NM_001407695.1:c.2380C>T
NM_001407696.1:c.2380C>T
NM_001407697.1:c.2380C>T
NM_001407698.1:c.2380C>T
NM_001407724.1:c.2380C>T
NM_001407725.1:c.2380C>T
NM_001407726.1:c.2380C>T
NM_001407727.1:c.2380C>T
NM_001407728.1:c.2380C>T
NM_001407729.1:c.2380C>T
NM_001407730.1:c.2380C>T
NM_001407731.1:c.2380C>T
NM_001407732.1:c.2380C>T
NM_001407733.1:c.2380C>T
NM_001407734.1:c.2380C>T
NM_001407735.1:c.2380C>T
NM_001407736.1:c.2380C>T
NM_001407737.1:c.2380C>T
NM_001407738.1:c.2380C>T
NM_001407739.1:c.2380C>T
NM_001407740.1:c.2377C>T
NM_001407741.1:c.2377C>T
NM_001407742.1:c.2377C>T
NM_001407743.1:c.2377C>T
NM_001407744.1:c.2377C>T
NM_001407745.1:c.2377C>T
NM_001407746.1:c.2377C>T
NM_001407747.1:c.2377C>T
NM_001407748.1:c.2377C>T
NM_001407749.1:c.2377C>T
NM_001407750.1:c.2380C>T
NM_001407751.1:c.2380C>T
NM_001407752.1:c.2380C>T
NM_001407838.1:c.2377C>T
NM_001407839.1:c.2377C>T
NM_001407841.1:c.2377C>T
NM_001407842.1:c.2377C>T
NM_001407843.1:c.2377C>T
NM_001407844.1:c.2377C>T
NM_001407845.1:c.2377C>T
NM_001407846.1:c.2377C>T
NM_001407847.1:c.2377C>T
NM_001407848.1:c.2377C>T
NM_001407849.1:c.2377C>T
NM_001407850.1:c.2380C>T
NM_001407851.1:c.2380C>T
NM_001407852.1:c.2380C>T
NM_001407853.1:c.2308C>T
NM_001407854.1:c.2521C>T
NM_001407858.1:c.2521C>T
NM_001407859.1:c.2521C>T
NM_001407860.1:c.2518C>T
NM_001407861.1:c.2518C>T
NM_001407862.1:c.2320C>T
NM_001407863.1:c.2398C>T
NM_001407874.1:c.2317C>T
NM_001407875.1:c.2317C>T
NM_001407879.1:c.2311C>T
NM_001407881.1:c.2311C>T
NM_001407882.1:c.2311C>T
NM_001407884.1:c.2311C>T
NM_001407885.1:c.2311C>T
NM_001407886.1:c.2311C>T
NM_001407887.1:c.2311C>T
NM_001407889.1:c.2311C>T
NM_001407894.1:c.2308C>T
NM_001407895.1:c.2308C>T
NM_001407896.1:c.2308C>T
NM_001407897.1:c.2308C>T
NM_001407898.1:c.2308C>T
NM_001407899.1:c.2308C>T
NM_001407900.1:c.2311C>T
NM_001407902.1:c.2311C>T
NM_001407904.1:c.2311C>T
NM_001407906.1:c.2311C>T
NM_001407907.1:c.2311C>T
NM_001407908.1:c.2311C>T
NM_001407909.1:c.2311C>T
NM_001407910.1:c.2311C>T
NM_001407915.1:c.2308C>T
NM_001407916.1:c.2308C>T
NM_001407917.1:c.2308C>T
NM_001407918.1:c.2308C>T
NM_001407919.1:c.2398C>T
NM_001407920.1:c.2257C>T
NM_001407921.1:c.2257C>T
NM_001407922.1:c.2257C>T
NM_001407923.1:c.2257C>T
NM_001407924.1:c.2257C>T
NM_001407925.1:c.2257C>T
NM_001407926.1:c.2257C>T
NM_001407927.1:c.2257C>T
NM_001407928.1:c.2257C>T
NM_001407929.1:c.2257C>T
NM_001407930.1:c.2254C>T
NM_001407931.1:c.2254C>T
NM_001407932.1:c.2254C>T
NM_001407933.1:c.2257C>T
NM_001407934.1:c.2254C>T
NM_001407935.1:c.2257C>T
NM_001407936.1:c.2254C>T
NM_001407937.1:c.2398C>T
NM_001407938.1:c.2398C>T
NM_001407939.1:c.2398C>T
NM_001407940.1:c.2395C>T
NM_001407941.1:c.2395C>T
NM_001407942.1:c.2380C>T
NM_001407943.1:c.2377C>T
NM_001407944.1:c.2380C>T
NM_001407945.1:c.2380C>T
NM_001407946.1:c.2188C>T
NM_001407947.1:c.2188C>T
NM_001407948.1:c.2188C>T
NM_001407949.1:c.2188C>T
NM_001407950.1:c.2188C>T
NM_001407951.1:c.2188C>T
NM_001407952.1:c.2188C>T
NM_001407953.1:c.2188C>T
NM_001407954.1:c.2185C>T
NM_001407955.1:c.2185C>T
NM_001407956.1:c.2185C>T
NM_001407957.1:c.2188C>T
NM_001407958.1:c.2185C>T
NM_001407959.1:c.2140C>T
NM_001407960.1:c.2140C>T
NM_001407962.1:c.2137C>T
NM_001407963.1:c.2140C>T
NM_001407964.1:c.2377C>T
NM_001407965.1:c.2017C>T
NM_001407966.1:c.1633C>T
NM_001407967.1:c.1633C>T
NM_001407968.1:c.788-871C>T
NM_001407969.1:c.788-871C>T
NM_001407970.1:c.787+1734C>T
NM_001407971.1:c.787+1734C>T
NM_001407972.1:c.784+1734C>T
NM_001407973.1:c.787+1734C>T
NM_001407974.1:c.787+1734C>T
NM_001407975.1:c.787+1734C>T
NM_001407976.1:c.787+1734C>T
NM_001407977.1:c.787+1734C>T
NM_001407978.1:c.787+1734C>T
NM_001407979.1:c.787+1734C>T
NM_001407980.1:c.787+1734C>T
NM_001407981.1:c.787+1734C>T
NM_001407982.1:c.787+1734C>T
NM_001407983.1:c.787+1734C>T
NM_001407984.1:c.784+1734C>T
NM_001407985.1:c.784+1734C>T
NM_001407986.1:c.784+1734C>T
NM_001407990.1:c.787+1734C>T
NM_001407991.1:c.784+1734C>T
NM_001407992.1:c.784+1734C>T
NM_001407993.1:c.787+1734C>T
NM_001408392.1:c.784+1734C>T
NM_001408396.1:c.784+1734C>T
NM_001408397.1:c.784+1734C>T
NM_001408398.1:c.784+1734C>T
NM_001408399.1:c.784+1734C>T
NM_001408400.1:c.784+1734C>T
NM_001408401.1:c.784+1734C>T
NM_001408402.1:c.784+1734C>T
NM_001408403.1:c.787+1734C>T
NM_001408404.1:c.787+1734C>T
NM_001408406.1:c.790+1731C>T
NM_001408407.1:c.784+1734C>T
NM_001408408.1:c.778+1734C>T
NM_001408409.1:c.709+1734C>T
NM_001408410.1:c.646+1734C>T
NM_001408411.1:c.709+1734C>T
NM_001408412.1:c.709+1734C>T
NM_001408413.1:c.706+1734C>T
NM_001408414.1:c.709+1734C>T
NM_001408415.1:c.709+1734C>T
NM_001408416.1:c.706+1734C>T
NM_001408418.1:c.671-1978C>T
NM_001408419.1:c.671-1978C>T
NM_001408420.1:c.671-1978C>T
NM_001408421.1:c.668-1978C>T
NM_001408422.1:c.671-1978C>T
NM_001408423.1:c.671-1978C>T
NM_001408424.1:c.668-1978C>T
NM_001408425.1:c.664+1734C>T
NM_001408426.1:c.664+1734C>T
NM_001408427.1:c.664+1734C>T
NM_001408428.1:c.664+1734C>T
NM_001408429.1:c.664+1734C>T
NM_001408430.1:c.664+1734C>T
NM_001408431.1:c.668-1978C>T
NM_001408432.1:c.661+1734C>T
NM_001408433.1:c.661+1734C>T
NM_001408434.1:c.661+1734C>T
NM_001408435.1:c.661+1734C>T
NM_001408436.1:c.664+1734C>T
NM_001408437.1:c.664+1734C>T
NM_001408438.1:c.664+1734C>T
NM_001408439.1:c.664+1734C>T
NM_001408440.1:c.664+1734C>T
NM_001408441.1:c.664+1734C>T
NM_001408442.1:c.664+1734C>T
NM_001408443.1:c.664+1734C>T
NM_001408444.1:c.664+1734C>T
NM_001408445.1:c.661+1734C>T
NM_001408446.1:c.661+1734C>T
NM_001408447.1:c.661+1734C>T
NM_001408448.1:c.661+1734C>T
NM_001408450.1:c.661+1734C>T
NM_001408451.1:c.652+1734C>T
NM_001408452.1:c.646+1734C>T
NM_001408453.1:c.646+1734C>T
NM_001408454.1:c.646+1734C>T
NM_001408455.1:c.646+1734C>T
NM_001408456.1:c.646+1734C>T
NM_001408457.1:c.646+1734C>T
NM_001408458.1:c.646+1734C>T
NM_001408459.1:c.646+1734C>T
NM_001408460.1:c.646+1734C>T
NM_001408461.1:c.646+1734C>T
NM_001408462.1:c.643+1734C>T
NM_001408463.1:c.643+1734C>T
NM_001408464.1:c.643+1734C>T
NM_001408465.1:c.643+1734C>T
NM_001408466.1:c.646+1734C>T
NM_001408467.1:c.646+1734C>T
NM_001408468.1:c.643+1734C>T
NM_001408469.1:c.646+1734C>T
NM_001408470.1:c.643+1734C>T
NM_001408472.1:c.787+1734C>T
NM_001408473.1:c.784+1734C>T
NM_001408474.1:c.586+1734C>T
NM_001408475.1:c.583+1734C>T
NM_001408476.1:c.586+1734C>T
NM_001408478.1:c.577+1734C>T
NM_001408479.1:c.577+1734C>T
NM_001408480.1:c.577+1734C>T
NM_001408481.1:c.577+1734C>T
NM_001408482.1:c.577+1734C>T
NM_001408483.1:c.577+1734C>T
NM_001408484.1:c.577+1734C>T
NM_001408485.1:c.577+1734C>T
NM_001408489.1:c.577+1734C>T
NM_001408490.1:c.574+1734C>T
NM_001408491.1:c.574+1734C>T
NM_001408492.1:c.577+1734C>T
NM_001408493.1:c.574+1734C>T
NM_001408494.1:c.548-1978C>T
NM_001408495.1:c.545-1978C>T
NM_001408496.1:c.523+1734C>T
NM_001408497.1:c.523+1734C>T
NM_001408498.1:c.523+1734C>T
NM_001408499.1:c.523+1734C>T
NM_001408500.1:c.523+1734C>T
NM_001408501.1:c.523+1734C>T
NM_001408502.1:c.454+1734C>T
NM_001408503.1:c.520+1734C>T
NM_001408504.1:c.520+1734C>T
NM_001408505.1:c.520+1734C>T
NM_001408506.1:c.461-1978C>T
NM_001408507.1:c.461-1978C>T
NM_001408508.1:c.451+1734C>T
NM_001408509.1:c.451+1734C>T
NM_001408510.1:c.406+1734C>T
NM_001408511.1:c.404-1978C>T
NM_001408512.1:c.283+1734C>T
NM_001408513.1:c.577+1734C>T
NM_001408514.1:c.577+1734C>T
NM_007294.4:c.2521C>TMANE SELECT
NM_007297.4:c.2380C>T
NM_007298.4:c.787+1734C>T
NM_007299.4:c.787+1734C>T
NM_007300.4:c.2521C>T
NP_001394500.1:p.Arg770Trp
NP_001394510.1:p.Arg841Trp
NP_001394511.1:p.Arg841Trp
NP_001394512.1:p.Arg841Trp
NP_001394514.1:p.Arg841Trp
NP_001394516.1:p.Arg840Trp
NP_001394519.1:p.Arg840Trp
NP_001394520.1:p.Arg840Trp
NP_001394522.1:p.Arg841Trp
NP_001394523.1:p.Arg841Trp
NP_001394525.1:p.Arg841Trp
NP_001394526.1:p.Arg841Trp
NP_001394527.1:p.Arg841Trp
NP_001394531.1:p.Arg841Trp
NP_001394532.1:p.Arg841Trp
NP_001394534.1:p.Arg841Trp
NP_001394539.1:p.Arg840Trp
NP_001394540.1:p.Arg840Trp
NP_001394541.1:p.Arg840Trp
NP_001394542.1:p.Arg840Trp
NP_001394543.1:p.Arg840Trp
NP_001394544.1:p.Arg840Trp
NP_001394545.1:p.Arg841Trp
NP_001394546.1:p.Arg841Trp
NP_001394547.1:p.Arg841Trp
NP_001394548.1:p.Arg841Trp
NP_001394549.1:p.Arg841Trp
NP_001394550.1:p.Arg841Trp
NP_001394551.1:p.Arg841Trp
NP_001394552.1:p.Arg841Trp
NP_001394553.1:p.Arg841Trp
NP_001394554.1:p.Arg841Trp
NP_001394555.1:p.Arg841Trp
NP_001394556.1:p.Arg840Trp
NP_001394557.1:p.Arg840Trp
NP_001394558.1:p.Arg840Trp
NP_001394559.1:p.Arg840Trp
NP_001394560.1:p.Arg840Trp
NP_001394561.1:p.Arg840Trp
NP_001394562.1:p.Arg840Trp
NP_001394563.1:p.Arg840Trp
NP_001394564.1:p.Arg840Trp
NP_001394565.1:p.Arg840Trp
NP_001394566.1:p.Arg840Trp
NP_001394567.1:p.Arg840Trp
NP_001394568.1:p.Arg841Trp
NP_001394569.1:p.Arg841Trp
NP_001394570.1:p.Arg841Trp
NP_001394571.1:p.Arg841Trp
NP_001394573.1:p.Arg840Trp
NP_001394574.1:p.Arg840Trp
NP_001394575.1:p.Arg838Trp
NP_001394576.1:p.Arg838Trp
NP_001394577.1:p.Arg800Trp
NP_001394578.1:p.Arg799Trp
NP_001394581.1:p.Arg841Trp
NP_001394582.1:p.Arg815Trp
NP_001394583.1:p.Arg815Trp
NP_001394584.1:p.Arg815Trp
NP_001394585.1:p.Arg815Trp
NP_001394586.1:p.Arg815Trp
NP_001394587.1:p.Arg815Trp
NP_001394588.1:p.Arg814Trp
NP_001394589.1:p.Arg814Trp
NP_001394590.1:p.Arg814Trp
NP_001394591.1:p.Arg814Trp
NP_001394592.1:p.Arg815Trp
NP_001394593.1:p.Arg800Trp
NP_001394594.1:p.Arg800Trp
NP_001394595.1:p.Arg800Trp
NP_001394596.1:p.Arg800Trp
NP_001394597.1:p.Arg800Trp
NP_001394598.1:p.Arg800Trp
NP_001394599.1:p.Arg799Trp
NP_001394600.1:p.Arg799Trp
NP_001394601.1:p.Arg799Trp
NP_001394602.1:p.Arg799Trp
NP_001394603.1:p.Arg800Trp
NP_001394604.1:p.Arg800Trp
NP_001394605.1:p.Arg800Trp
NP_001394606.1:p.Arg800Trp
NP_001394607.1:p.Arg800Trp
NP_001394608.1:p.Arg800Trp
NP_001394609.1:p.Arg800Trp
NP_001394610.1:p.Arg800Trp
NP_001394611.1:p.Arg800Trp
NP_001394612.1:p.Arg800Trp
NP_001394613.1:p.Arg841Trp
NP_001394614.1:p.Arg799Trp
NP_001394615.1:p.Arg799Trp
NP_001394616.1:p.Arg799Trp
NP_001394617.1:p.Arg799Trp
NP_001394618.1:p.Arg799Trp
NP_001394619.1:p.Arg799Trp
NP_001394620.1:p.Arg799Trp
NP_001394621.1:p.Arg794Trp
NP_001394623.1:p.Arg794Trp
NP_001394624.1:p.Arg794Trp
NP_001394625.1:p.Arg794Trp
NP_001394626.1:p.Arg794Trp
NP_001394627.1:p.Arg794Trp
NP_001394653.1:p.Arg794Trp
NP_001394654.1:p.Arg794Trp
NP_001394655.1:p.Arg794Trp
NP_001394656.1:p.Arg794Trp
NP_001394657.1:p.Arg794Trp
NP_001394658.1:p.Arg794Trp
NP_001394659.1:p.Arg794Trp
NP_001394660.1:p.Arg794Trp
NP_001394661.1:p.Arg794Trp
NP_001394662.1:p.Arg794Trp
NP_001394663.1:p.Arg794Trp
NP_001394664.1:p.Arg794Trp
NP_001394665.1:p.Arg794Trp
NP_001394666.1:p.Arg794Trp
NP_001394667.1:p.Arg794Trp
NP_001394668.1:p.Arg794Trp
NP_001394669.1:p.Arg793Trp
NP_001394670.1:p.Arg793Trp
NP_001394671.1:p.Arg793Trp
NP_001394672.1:p.Arg793Trp
NP_001394673.1:p.Arg793Trp
NP_001394674.1:p.Arg793Trp
NP_001394675.1:p.Arg793Trp
NP_001394676.1:p.Arg793Trp
NP_001394677.1:p.Arg793Trp
NP_001394678.1:p.Arg793Trp
NP_001394679.1:p.Arg794Trp
NP_001394680.1:p.Arg794Trp
NP_001394681.1:p.Arg794Trp
NP_001394767.1:p.Arg793Trp
NP_001394768.1:p.Arg793Trp
NP_001394770.1:p.Arg793Trp
NP_001394771.1:p.Arg793Trp
NP_001394772.1:p.Arg793Trp
NP_001394773.1:p.Arg793Trp
NP_001394774.1:p.Arg793Trp
NP_001394775.1:p.Arg793Trp
NP_001394776.1:p.Arg793Trp
NP_001394777.1:p.Arg793Trp
NP_001394778.1:p.Arg793Trp
NP_001394779.1:p.Arg794Trp
NP_001394780.1:p.Arg794Trp
NP_001394781.1:p.Arg794Trp
NP_001394782.1:p.Arg770Trp
NP_001394783.1:p.Arg841Trp
NP_001394787.1:p.Arg841Trp
NP_001394788.1:p.Arg841Trp
NP_001394789.1:p.Arg840Trp
NP_001394790.1:p.Arg840Trp
NP_001394791.1:p.Arg774Trp
NP_001394792.1:p.Arg800Trp
NP_001394803.1:p.Arg773Trp
NP_001394804.1:p.Arg773Trp
NP_001394808.1:p.Arg771Trp
NP_001394810.1:p.Arg771Trp
NP_001394811.1:p.Arg771Trp
NP_001394813.1:p.Arg771Trp
NP_001394814.1:p.Arg771Trp
NP_001394815.1:p.Arg771Trp
NP_001394816.1:p.Arg771Trp
NP_001394818.1:p.Arg771Trp
NP_001394823.1:p.Arg770Trp
NP_001394824.1:p.Arg770Trp
NP_001394825.1:p.Arg770Trp
NP_001394826.1:p.Arg770Trp
NP_001394827.1:p.Arg770Trp
NP_001394828.1:p.Arg770Trp
NP_001394829.1:p.Arg771Trp
NP_001394831.1:p.Arg771Trp
NP_001394833.1:p.Arg771Trp
NP_001394835.1:p.Arg771Trp
NP_001394836.1:p.Arg771Trp
NP_001394837.1:p.Arg771Trp
NP_001394838.1:p.Arg771Trp
NP_001394839.1:p.Arg771Trp
NP_001394844.1:p.Arg770Trp
NP_001394845.1:p.Arg770Trp
NP_001394846.1:p.Arg770Trp
NP_001394847.1:p.Arg770Trp
NP_001394848.1:p.Arg800Trp
NP_001394849.1:p.Arg753Trp
NP_001394850.1:p.Arg753Trp
NP_001394851.1:p.Arg753Trp
NP_001394852.1:p.Arg753Trp
NP_001394853.1:p.Arg753Trp
NP_001394854.1:p.Arg753Trp
NP_001394855.1:p.Arg753Trp
NP_001394856.1:p.Arg753Trp
NP_001394857.1:p.Arg753Trp
NP_001394858.1:p.Arg753Trp
NP_001394859.1:p.Arg752Trp
NP_001394860.1:p.Arg752Trp
NP_001394861.1:p.Arg752Trp
NP_001394862.1:p.Arg753Trp
NP_001394863.1:p.Arg752Trp
NP_001394864.1:p.Arg753Trp
NP_001394865.1:p.Arg752Trp
NP_001394866.1:p.Arg800Trp
NP_001394867.1:p.Arg800Trp
NP_001394868.1:p.Arg800Trp
NP_001394869.1:p.Arg799Trp
NP_001394870.1:p.Arg799Trp
NP_001394871.1:p.Arg794Trp
NP_001394872.1:p.Arg793Trp
NP_001394873.1:p.Arg794Trp
NP_001394874.1:p.Arg794Trp
NP_001394875.1:p.Arg730Trp
NP_001394876.1:p.Arg730Trp
NP_001394877.1:p.Arg730Trp
NP_001394878.1:p.Arg730Trp
NP_001394879.1:p.Arg730Trp
NP_001394880.1:p.Arg730Trp
NP_001394881.1:p.Arg730Trp
NP_001394882.1:p.Arg730Trp
NP_001394883.1:p.Arg729Trp
NP_001394884.1:p.Arg729Trp
NP_001394885.1:p.Arg729Trp
NP_001394886.1:p.Arg730Trp
NP_001394887.1:p.Arg729Trp
NP_001394888.1:p.Arg714Trp
NP_001394889.1:p.Arg714Trp
NP_001394891.1:p.Arg713Trp
NP_001394892.1:p.Arg714Trp
NP_001394893.1:p.Arg793Trp
NP_001394894.1:p.Arg673Trp
NP_001394895.1:p.Arg545Trp
NP_001394896.1:p.Arg545Trp
NP_009225.1:p.Arg841Trp
NP_009225.1:p.Arg841Trp
NP_009228.2:p.Arg794Trp
NP_009231.2:p.Arg841Trp
LRG_292t1:c.2521C>T
LRG_292:g.124974C>T
LRG_292p1:p.Arg841Trp
NC_000017.10:g.41245027G>A
NM_007294.2:c.2521C>T
NM_007294.3:c.2521C>T
NM_007300.3:c.2521C>T
NR_027676.1:n.2657C>T
P38398:p.Arg841Trp
U14680.1:n.2640C>T
p.R841W

Nucleotide change:

2640C>T

Protein change:

R545W; ARG841TRP

Links:

BRCA1-HCI: BRCA1_00003; UniProtKB: P38398#VAR_007773; OMIM: 113705.0022; dbSNP: rs1800709

NCBI 1000 Genomes Browser:

rs1800709

Molecular consequence:

NM_001407968.1:c.788-871C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-871C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1731C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1978C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1734C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.2512C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.2512C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.2440C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.2440C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.2440C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.2440C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2320C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2317C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2317C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2185C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2185C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2185C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2185C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2140C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2140C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2137C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2140C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2017C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.1633C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.1633C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2380C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.2521C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039539	OMIM	no assertion criteria provided	Uncertain significance (Nov 1, 2012)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8968716, 22753008
SCV000053650	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Mar 1, 2011)	germline	clinical testing
SCV000144466	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000154021	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Feb 18, 2014)	unknown	literature only	PubMed (9) [See all records that cite these PMIDs] 16489001, 21520273, 21990134, 15290653, 8968716, 8776600, 21702907, 22703879, 16014699 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000244321	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000267702	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000301432	Department of Medical Genetics, University Hospital of North Norway	no assertion criteria provided	Likely benign (May 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000733641	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV000743415	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Oct 9, 2014)	germline	clinical testing	Citation Link,
SCV000744655	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Sep 21, 2015)	germline	clinical testing	Citation Link,
SCV001140573	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001280881	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Jan 30, 2019)	germline	clinical testing	Citation Link,
SCV004016783	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004244087	BRCAlab, Lund University	no assertion criteria provided	Benign (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	yes	62	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation
not provided	germline	not provided	1	not provided	not provided	1	not provided	literature only, clinical testing
African American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi, Near Eastern	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Carribean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	41	not provided	not provided	not provided	not provided	clinical testing
Western European, English, Irish	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A guide for functional analysis of BRCA1 variants of uncertain significance.

Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group.

Hum Mutat. 2012 Nov;33(11):1526-37. doi: 10.1002/humu.22150. Epub 2012 Jul 16. Review.

PubMed [citation]

PMID:: 22753008
PMCID:: PMC3470782

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, et al.

Cancer Res. 2006 Feb 15;66(4):2019-27.

PubMed [citation]

PMID:: 16489001

See all PubMed Citations (12)

Details of each submission

From OMIM, SCV000039539.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

This variant, formerly titled BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, has been reclassified based on the findings of Millot et al. (2012).

Barker et al. (1996) reported an arg841-to-trp (R814W) mutation in the BRCA1 gene as a common mutation identified in patients with breast-ovarian cancer (604370).

Functional assays used to assess the impact of the R814W variant indicated that R814W is a class 1 variant (not pathogenic or of no clinical significance), according to the International Agency for Research on Cancer (IARC) class system (Millot et al., 2012).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sharing Clinical Reports Project (SCRP), SCV000053650.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144466.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	55	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	not provided	4	not provided	not provided	clinical testing	not provided
5	not provided	1	not provided	not provided	clinical testing	not provided
6	African American	1	not provided	not provided	clinical testing	not provided
7	Ashkenazi, Central/Eastern European	1	not provided	not provided	clinical testing	not provided
8	Ashkenazi, Near Eastern	1	not provided	not provided	clinical testing	not provided
9	Carribean	1	not provided	not provided	clinical testing	not provided
10	Caucasian	1	not provided	not provided	clinical testing	not provided
11	Caucasian	1	not provided	not provided	clinical testing	not provided
12	Caucasian	2	not provided	not provided	clinical testing	not provided
13	Caucasian	2	not provided	not provided	clinical testing	not provided
14	Central/Eastern European	2	not provided	not provided	clinical testing	not provided
15	Latin American, Caribbean	2	not provided	not provided	clinical testing	not provided
16	Native American	1	not provided	not provided	clinical testing	not provided
17	Western European	41	not provided	not provided	clinical testing	not provided
18	Western European, English, Irish	1	not provided	not provided	clinical testing	not provided
19	Western European, Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
20	Western Europeanan, Central/Eastern European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		55	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
11	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
12	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
13	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
14	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
15	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
16	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
17	germline	yes	not provided	not provided	not provided		41	not provided	not provided	not provided
18	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
19	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
20	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000154021.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	literature only	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244321.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000000000229

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000267702.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Department of Medical Genetics, University Hospital of North Norway, SCV000301432.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	1	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733641.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743415.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744655.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001140573.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV001280881.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016783.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004244087.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

Relating variation to medicine