NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) AND not specified

Germline classification:: Benign/Likely benign (11 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000120283.43

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084435	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000167280	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 4, 2013)	germline	clinical testing	Citation Link,
SCV000311791	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000336440	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Oct 13, 2015)	germline	clinical testing	Citation Link,
SCV000538437	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Mar 29, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000586885	Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 18, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000591392	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Benign	unknown	clinical testing
SCV001800207	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001905820	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001951674	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002551017	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	12	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

See all PubMed Citations (3)

Details of each submission

From ITMI, SCV000084435.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.0045	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0.0042	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0029	not provided	not provided

From GeneDx, SCV000167280.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 PreventionGenetics, part of Exact Sciences, SCV000311791.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000336440.4

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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538437.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.2% (145/66714) European chromosomes; ClinVar: 7 labs classify as 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 Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586885.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591392.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	12	not provided	not provided	clinical testing	not provided

Description

The p.Arg841Trp variant has been previously reported in 16/8958 proband chromosomes (frequency: 0.002) in individuals with breast or ovarian cancer, however, no controls were included in these studies (Barker 1996, Borg 2010, Diez 2003, Janezic 1999, Pal 2004, Shattuck-Eidens 1997). The variant was also listed in the dbSNP database as having an average heterozygosity of 0.006+/-0.056 (ID#:rs1800709), increasing the likelihood this variant does not have clinical significance. The p.Arg841 residue is not conserved in mammals or lower organisms; however, computational analyses (SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein and this information is not very predictive of pathogenicity. There are also numerous studies in the literature which have attempted to classify this variant using different modeling appoaches but the effect of this variant on protein function remains undetermined (Burk Herrick 2006, Chenevix-Trench 2006, Goldgar 2004, Fleming 2003, Lindor 2011, Petersen 1998). Notably, this variant was reported in the UMD database, 54 times and in 6 individuals with a second pathogenic variant in either the BRCA1 or BRCA2 genes, increasing the likelihood the p.Arg841Trp variant is benign. It is also reported 114 times in the BIC database with unknown clinical consequence, although this high frequency might suggest it is a common benign polymorphism. Finally, this variant was reported by Myriad as a common polymorphism. In summary, based on the above information, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		12	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800207.1

#	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 Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001905820.1

#	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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001951674.1

#	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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002551017.4

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

Relating variation to medicine