NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Mar 23, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000132262.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)]

NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)

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.1397G>A (p.Arg466Gln)

Other names:

p.R466Q:CGG>CAG

HGVS:

NC_000017.11:g.43094134C>T
NG_005905.2:g.123850G>A
NM_001407571.1:c.1184G>A
NM_001407581.1:c.1397G>A
NM_001407582.1:c.1397G>A
NM_001407583.1:c.1397G>A
NM_001407585.1:c.1397G>A
NM_001407587.1:c.1394G>A
NM_001407590.1:c.1394G>A
NM_001407591.1:c.1394G>A
NM_001407593.1:c.1397G>A
NM_001407594.1:c.1397G>A
NM_001407596.1:c.1397G>A
NM_001407597.1:c.1397G>A
NM_001407598.1:c.1397G>A
NM_001407602.1:c.1397G>A
NM_001407603.1:c.1397G>A
NM_001407605.1:c.1397G>A
NM_001407610.1:c.1394G>A
NM_001407611.1:c.1394G>A
NM_001407612.1:c.1394G>A
NM_001407613.1:c.1394G>A
NM_001407614.1:c.1394G>A
NM_001407615.1:c.1394G>A
NM_001407616.1:c.1397G>A
NM_001407617.1:c.1397G>A
NM_001407618.1:c.1397G>A
NM_001407619.1:c.1397G>A
NM_001407620.1:c.1397G>A
NM_001407621.1:c.1397G>A
NM_001407622.1:c.1397G>A
NM_001407623.1:c.1397G>A
NM_001407624.1:c.1397G>A
NM_001407625.1:c.1397G>A
NM_001407626.1:c.1397G>A
NM_001407627.1:c.1394G>A
NM_001407628.1:c.1394G>A
NM_001407629.1:c.1394G>A
NM_001407630.1:c.1394G>A
NM_001407631.1:c.1394G>A
NM_001407632.1:c.1394G>A
NM_001407633.1:c.1394G>A
NM_001407634.1:c.1394G>A
NM_001407635.1:c.1394G>A
NM_001407636.1:c.1394G>A
NM_001407637.1:c.1394G>A
NM_001407638.1:c.1394G>A
NM_001407639.1:c.1397G>A
NM_001407640.1:c.1397G>A
NM_001407641.1:c.1397G>A
NM_001407642.1:c.1397G>A
NM_001407644.1:c.1394G>A
NM_001407645.1:c.1394G>A
NM_001407646.1:c.1388G>A
NM_001407647.1:c.1388G>A
NM_001407648.1:c.1274G>A
NM_001407649.1:c.1271G>A
NM_001407652.1:c.1397G>A
NM_001407653.1:c.1319G>A
NM_001407654.1:c.1319G>A
NM_001407655.1:c.1319G>A
NM_001407656.1:c.1319G>A
NM_001407657.1:c.1319G>A
NM_001407658.1:c.1319G>A
NM_001407659.1:c.1316G>A
NM_001407660.1:c.1316G>A
NM_001407661.1:c.1316G>A
NM_001407662.1:c.1316G>A
NM_001407663.1:c.1319G>A
NM_001407664.1:c.1274G>A
NM_001407665.1:c.1274G>A
NM_001407666.1:c.1274G>A
NM_001407667.1:c.1274G>A
NM_001407668.1:c.1274G>A
NM_001407669.1:c.1274G>A
NM_001407670.1:c.1271G>A
NM_001407671.1:c.1271G>A
NM_001407672.1:c.1271G>A
NM_001407673.1:c.1271G>A
NM_001407674.1:c.1274G>A
NM_001407675.1:c.1274G>A
NM_001407676.1:c.1274G>A
NM_001407677.1:c.1274G>A
NM_001407678.1:c.1274G>A
NM_001407679.1:c.1274G>A
NM_001407680.1:c.1274G>A
NM_001407681.1:c.1274G>A
NM_001407682.1:c.1274G>A
NM_001407683.1:c.1274G>A
NM_001407684.1:c.1397G>A
NM_001407685.1:c.1271G>A
NM_001407686.1:c.1271G>A
NM_001407687.1:c.1271G>A
NM_001407688.1:c.1271G>A
NM_001407689.1:c.1271G>A
NM_001407690.1:c.1271G>A
NM_001407691.1:c.1271G>A
NM_001407692.1:c.1256G>A
NM_001407694.1:c.1256G>A
NM_001407695.1:c.1256G>A
NM_001407696.1:c.1256G>A
NM_001407697.1:c.1256G>A
NM_001407698.1:c.1256G>A
NM_001407724.1:c.1256G>A
NM_001407725.1:c.1256G>A
NM_001407726.1:c.1256G>A
NM_001407727.1:c.1256G>A
NM_001407728.1:c.1256G>A
NM_001407729.1:c.1256G>A
NM_001407730.1:c.1256G>A
NM_001407731.1:c.1256G>A
NM_001407732.1:c.1256G>A
NM_001407733.1:c.1256G>A
NM_001407734.1:c.1256G>A
NM_001407735.1:c.1256G>A
NM_001407736.1:c.1256G>A
NM_001407737.1:c.1256G>A
NM_001407738.1:c.1256G>A
NM_001407739.1:c.1256G>A
NM_001407740.1:c.1253G>A
NM_001407741.1:c.1253G>A
NM_001407742.1:c.1253G>A
NM_001407743.1:c.1253G>A
NM_001407744.1:c.1253G>A
NM_001407745.1:c.1253G>A
NM_001407746.1:c.1253G>A
NM_001407747.1:c.1253G>A
NM_001407748.1:c.1253G>A
NM_001407749.1:c.1253G>A
NM_001407750.1:c.1256G>A
NM_001407751.1:c.1256G>A
NM_001407752.1:c.1256G>A
NM_001407838.1:c.1253G>A
NM_001407839.1:c.1253G>A
NM_001407841.1:c.1253G>A
NM_001407842.1:c.1253G>A
NM_001407843.1:c.1253G>A
NM_001407844.1:c.1253G>A
NM_001407845.1:c.1253G>A
NM_001407846.1:c.1253G>A
NM_001407847.1:c.1253G>A
NM_001407848.1:c.1253G>A
NM_001407849.1:c.1253G>A
NM_001407850.1:c.1256G>A
NM_001407851.1:c.1256G>A
NM_001407852.1:c.1256G>A
NM_001407853.1:c.1184G>A
NM_001407854.1:c.1397G>A
NM_001407858.1:c.1397G>A
NM_001407859.1:c.1397G>A
NM_001407860.1:c.1394G>A
NM_001407861.1:c.1394G>A
NM_001407862.1:c.1196G>A
NM_001407863.1:c.1274G>A
NM_001407874.1:c.1193G>A
NM_001407875.1:c.1193G>A
NM_001407879.1:c.1187G>A
NM_001407881.1:c.1187G>A
NM_001407882.1:c.1187G>A
NM_001407884.1:c.1187G>A
NM_001407885.1:c.1187G>A
NM_001407886.1:c.1187G>A
NM_001407887.1:c.1187G>A
NM_001407889.1:c.1187G>A
NM_001407894.1:c.1184G>A
NM_001407895.1:c.1184G>A
NM_001407896.1:c.1184G>A
NM_001407897.1:c.1184G>A
NM_001407898.1:c.1184G>A
NM_001407899.1:c.1184G>A
NM_001407900.1:c.1187G>A
NM_001407902.1:c.1187G>A
NM_001407904.1:c.1187G>A
NM_001407906.1:c.1187G>A
NM_001407907.1:c.1187G>A
NM_001407908.1:c.1187G>A
NM_001407909.1:c.1187G>A
NM_001407910.1:c.1187G>A
NM_001407915.1:c.1184G>A
NM_001407916.1:c.1184G>A
NM_001407917.1:c.1184G>A
NM_001407918.1:c.1184G>A
NM_001407919.1:c.1274G>A
NM_001407920.1:c.1133G>A
NM_001407921.1:c.1133G>A
NM_001407922.1:c.1133G>A
NM_001407923.1:c.1133G>A
NM_001407924.1:c.1133G>A
NM_001407925.1:c.1133G>A
NM_001407926.1:c.1133G>A
NM_001407927.1:c.1133G>A
NM_001407928.1:c.1133G>A
NM_001407929.1:c.1133G>A
NM_001407930.1:c.1130G>A
NM_001407931.1:c.1130G>A
NM_001407932.1:c.1130G>A
NM_001407933.1:c.1133G>A
NM_001407934.1:c.1130G>A
NM_001407935.1:c.1133G>A
NM_001407936.1:c.1130G>A
NM_001407937.1:c.1274G>A
NM_001407938.1:c.1274G>A
NM_001407939.1:c.1274G>A
NM_001407940.1:c.1271G>A
NM_001407941.1:c.1271G>A
NM_001407942.1:c.1256G>A
NM_001407943.1:c.1253G>A
NM_001407944.1:c.1256G>A
NM_001407945.1:c.1256G>A
NM_001407946.1:c.1064G>A
NM_001407947.1:c.1064G>A
NM_001407948.1:c.1064G>A
NM_001407949.1:c.1064G>A
NM_001407950.1:c.1064G>A
NM_001407951.1:c.1064G>A
NM_001407952.1:c.1064G>A
NM_001407953.1:c.1064G>A
NM_001407954.1:c.1061G>A
NM_001407955.1:c.1061G>A
NM_001407956.1:c.1061G>A
NM_001407957.1:c.1064G>A
NM_001407958.1:c.1061G>A
NM_001407959.1:c.1016G>A
NM_001407960.1:c.1016G>A
NM_001407962.1:c.1013G>A
NM_001407963.1:c.1016G>A
NM_001407964.1:c.1253G>A
NM_001407965.1:c.893G>A
NM_001407966.1:c.509G>A
NM_001407967.1:c.509G>A
NM_001407968.1:c.787+610G>A
NM_001407969.1:c.787+610G>A
NM_001407970.1:c.787+610G>A
NM_001407971.1:c.787+610G>A
NM_001407972.1:c.784+610G>A
NM_001407973.1:c.787+610G>A
NM_001407974.1:c.787+610G>A
NM_001407975.1:c.787+610G>A
NM_001407976.1:c.787+610G>A
NM_001407977.1:c.787+610G>A
NM_001407978.1:c.787+610G>A
NM_001407979.1:c.787+610G>A
NM_001407980.1:c.787+610G>A
NM_001407981.1:c.787+610G>A
NM_001407982.1:c.787+610G>A
NM_001407983.1:c.787+610G>A
NM_001407984.1:c.784+610G>A
NM_001407985.1:c.784+610G>A
NM_001407986.1:c.784+610G>A
NM_001407990.1:c.787+610G>A
NM_001407991.1:c.784+610G>A
NM_001407992.1:c.784+610G>A
NM_001407993.1:c.787+610G>A
NM_001408392.1:c.784+610G>A
NM_001408396.1:c.784+610G>A
NM_001408397.1:c.784+610G>A
NM_001408398.1:c.784+610G>A
NM_001408399.1:c.784+610G>A
NM_001408400.1:c.784+610G>A
NM_001408401.1:c.784+610G>A
NM_001408402.1:c.784+610G>A
NM_001408403.1:c.787+610G>A
NM_001408404.1:c.787+610G>A
NM_001408406.1:c.790+607G>A
NM_001408407.1:c.784+610G>A
NM_001408408.1:c.778+610G>A
NM_001408409.1:c.709+610G>A
NM_001408410.1:c.646+610G>A
NM_001408411.1:c.709+610G>A
NM_001408412.1:c.709+610G>A
NM_001408413.1:c.706+610G>A
NM_001408414.1:c.709+610G>A
NM_001408415.1:c.709+610G>A
NM_001408416.1:c.706+610G>A
NM_001408418.1:c.670+1712G>A
NM_001408419.1:c.670+1712G>A
NM_001408420.1:c.670+1712G>A
NM_001408421.1:c.667+1712G>A
NM_001408422.1:c.670+1712G>A
NM_001408423.1:c.670+1712G>A
NM_001408424.1:c.667+1712G>A
NM_001408425.1:c.664+610G>A
NM_001408426.1:c.664+610G>A
NM_001408427.1:c.664+610G>A
NM_001408428.1:c.664+610G>A
NM_001408429.1:c.664+610G>A
NM_001408430.1:c.664+610G>A
NM_001408431.1:c.667+1712G>A
NM_001408432.1:c.661+610G>A
NM_001408433.1:c.661+610G>A
NM_001408434.1:c.661+610G>A
NM_001408435.1:c.661+610G>A
NM_001408436.1:c.664+610G>A
NM_001408437.1:c.664+610G>A
NM_001408438.1:c.664+610G>A
NM_001408439.1:c.664+610G>A
NM_001408440.1:c.664+610G>A
NM_001408441.1:c.664+610G>A
NM_001408442.1:c.664+610G>A
NM_001408443.1:c.664+610G>A
NM_001408444.1:c.664+610G>A
NM_001408445.1:c.661+610G>A
NM_001408446.1:c.661+610G>A
NM_001408447.1:c.661+610G>A
NM_001408448.1:c.661+610G>A
NM_001408450.1:c.661+610G>A
NM_001408451.1:c.652+610G>A
NM_001408452.1:c.646+610G>A
NM_001408453.1:c.646+610G>A
NM_001408454.1:c.646+610G>A
NM_001408455.1:c.646+610G>A
NM_001408456.1:c.646+610G>A
NM_001408457.1:c.646+610G>A
NM_001408458.1:c.646+610G>A
NM_001408459.1:c.646+610G>A
NM_001408460.1:c.646+610G>A
NM_001408461.1:c.646+610G>A
NM_001408462.1:c.643+610G>A
NM_001408463.1:c.643+610G>A
NM_001408464.1:c.643+610G>A
NM_001408465.1:c.643+610G>A
NM_001408466.1:c.646+610G>A
NM_001408467.1:c.646+610G>A
NM_001408468.1:c.643+610G>A
NM_001408469.1:c.646+610G>A
NM_001408470.1:c.643+610G>A
NM_001408472.1:c.787+610G>A
NM_001408473.1:c.784+610G>A
NM_001408474.1:c.586+610G>A
NM_001408475.1:c.583+610G>A
NM_001408476.1:c.586+610G>A
NM_001408478.1:c.577+610G>A
NM_001408479.1:c.577+610G>A
NM_001408480.1:c.577+610G>A
NM_001408481.1:c.577+610G>A
NM_001408482.1:c.577+610G>A
NM_001408483.1:c.577+610G>A
NM_001408484.1:c.577+610G>A
NM_001408485.1:c.577+610G>A
NM_001408489.1:c.577+610G>A
NM_001408490.1:c.574+610G>A
NM_001408491.1:c.574+610G>A
NM_001408492.1:c.577+610G>A
NM_001408493.1:c.574+610G>A
NM_001408494.1:c.548-3102G>A
NM_001408495.1:c.545-3102G>A
NM_001408496.1:c.523+610G>A
NM_001408497.1:c.523+610G>A
NM_001408498.1:c.523+610G>A
NM_001408499.1:c.523+610G>A
NM_001408500.1:c.523+610G>A
NM_001408501.1:c.523+610G>A
NM_001408502.1:c.454+610G>A
NM_001408503.1:c.520+610G>A
NM_001408504.1:c.520+610G>A
NM_001408505.1:c.520+610G>A
NM_001408506.1:c.460+1712G>A
NM_001408507.1:c.460+1712G>A
NM_001408508.1:c.451+610G>A
NM_001408509.1:c.451+610G>A
NM_001408510.1:c.406+610G>A
NM_001408511.1:c.404-3102G>A
NM_001408512.1:c.283+610G>A
NM_001408513.1:c.577+610G>A
NM_001408514.1:c.577+610G>A
NM_007294.4:c.1397G>AMANE SELECT
NM_007297.4:c.1256G>A
NM_007298.4:c.787+610G>A
NM_007299.4:c.787+610G>A
NM_007300.4:c.1397G>A
NP_001394500.1:p.Arg395Gln
NP_001394510.1:p.Arg466Gln
NP_001394511.1:p.Arg466Gln
NP_001394512.1:p.Arg466Gln
NP_001394514.1:p.Arg466Gln
NP_001394516.1:p.Arg465Gln
NP_001394519.1:p.Arg465Gln
NP_001394520.1:p.Arg465Gln
NP_001394522.1:p.Arg466Gln
NP_001394523.1:p.Arg466Gln
NP_001394525.1:p.Arg466Gln
NP_001394526.1:p.Arg466Gln
NP_001394527.1:p.Arg466Gln
NP_001394531.1:p.Arg466Gln
NP_001394532.1:p.Arg466Gln
NP_001394534.1:p.Arg466Gln
NP_001394539.1:p.Arg465Gln
NP_001394540.1:p.Arg465Gln
NP_001394541.1:p.Arg465Gln
NP_001394542.1:p.Arg465Gln
NP_001394543.1:p.Arg465Gln
NP_001394544.1:p.Arg465Gln
NP_001394545.1:p.Arg466Gln
NP_001394546.1:p.Arg466Gln
NP_001394547.1:p.Arg466Gln
NP_001394548.1:p.Arg466Gln
NP_001394549.1:p.Arg466Gln
NP_001394550.1:p.Arg466Gln
NP_001394551.1:p.Arg466Gln
NP_001394552.1:p.Arg466Gln
NP_001394553.1:p.Arg466Gln
NP_001394554.1:p.Arg466Gln
NP_001394555.1:p.Arg466Gln
NP_001394556.1:p.Arg465Gln
NP_001394557.1:p.Arg465Gln
NP_001394558.1:p.Arg465Gln
NP_001394559.1:p.Arg465Gln
NP_001394560.1:p.Arg465Gln
NP_001394561.1:p.Arg465Gln
NP_001394562.1:p.Arg465Gln
NP_001394563.1:p.Arg465Gln
NP_001394564.1:p.Arg465Gln
NP_001394565.1:p.Arg465Gln
NP_001394566.1:p.Arg465Gln
NP_001394567.1:p.Arg465Gln
NP_001394568.1:p.Arg466Gln
NP_001394569.1:p.Arg466Gln
NP_001394570.1:p.Arg466Gln
NP_001394571.1:p.Arg466Gln
NP_001394573.1:p.Arg465Gln
NP_001394574.1:p.Arg465Gln
NP_001394575.1:p.Arg463Gln
NP_001394576.1:p.Arg463Gln
NP_001394577.1:p.Arg425Gln
NP_001394578.1:p.Arg424Gln
NP_001394581.1:p.Arg466Gln
NP_001394582.1:p.Arg440Gln
NP_001394583.1:p.Arg440Gln
NP_001394584.1:p.Arg440Gln
NP_001394585.1:p.Arg440Gln
NP_001394586.1:p.Arg440Gln
NP_001394587.1:p.Arg440Gln
NP_001394588.1:p.Arg439Gln
NP_001394589.1:p.Arg439Gln
NP_001394590.1:p.Arg439Gln
NP_001394591.1:p.Arg439Gln
NP_001394592.1:p.Arg440Gln
NP_001394593.1:p.Arg425Gln
NP_001394594.1:p.Arg425Gln
NP_001394595.1:p.Arg425Gln
NP_001394596.1:p.Arg425Gln
NP_001394597.1:p.Arg425Gln
NP_001394598.1:p.Arg425Gln
NP_001394599.1:p.Arg424Gln
NP_001394600.1:p.Arg424Gln
NP_001394601.1:p.Arg424Gln
NP_001394602.1:p.Arg424Gln
NP_001394603.1:p.Arg425Gln
NP_001394604.1:p.Arg425Gln
NP_001394605.1:p.Arg425Gln
NP_001394606.1:p.Arg425Gln
NP_001394607.1:p.Arg425Gln
NP_001394608.1:p.Arg425Gln
NP_001394609.1:p.Arg425Gln
NP_001394610.1:p.Arg425Gln
NP_001394611.1:p.Arg425Gln
NP_001394612.1:p.Arg425Gln
NP_001394613.1:p.Arg466Gln
NP_001394614.1:p.Arg424Gln
NP_001394615.1:p.Arg424Gln
NP_001394616.1:p.Arg424Gln
NP_001394617.1:p.Arg424Gln
NP_001394618.1:p.Arg424Gln
NP_001394619.1:p.Arg424Gln
NP_001394620.1:p.Arg424Gln
NP_001394621.1:p.Arg419Gln
NP_001394623.1:p.Arg419Gln
NP_001394624.1:p.Arg419Gln
NP_001394625.1:p.Arg419Gln
NP_001394626.1:p.Arg419Gln
NP_001394627.1:p.Arg419Gln
NP_001394653.1:p.Arg419Gln
NP_001394654.1:p.Arg419Gln
NP_001394655.1:p.Arg419Gln
NP_001394656.1:p.Arg419Gln
NP_001394657.1:p.Arg419Gln
NP_001394658.1:p.Arg419Gln
NP_001394659.1:p.Arg419Gln
NP_001394660.1:p.Arg419Gln
NP_001394661.1:p.Arg419Gln
NP_001394662.1:p.Arg419Gln
NP_001394663.1:p.Arg419Gln
NP_001394664.1:p.Arg419Gln
NP_001394665.1:p.Arg419Gln
NP_001394666.1:p.Arg419Gln
NP_001394667.1:p.Arg419Gln
NP_001394668.1:p.Arg419Gln
NP_001394669.1:p.Arg418Gln
NP_001394670.1:p.Arg418Gln
NP_001394671.1:p.Arg418Gln
NP_001394672.1:p.Arg418Gln
NP_001394673.1:p.Arg418Gln
NP_001394674.1:p.Arg418Gln
NP_001394675.1:p.Arg418Gln
NP_001394676.1:p.Arg418Gln
NP_001394677.1:p.Arg418Gln
NP_001394678.1:p.Arg418Gln
NP_001394679.1:p.Arg419Gln
NP_001394680.1:p.Arg419Gln
NP_001394681.1:p.Arg419Gln
NP_001394767.1:p.Arg418Gln
NP_001394768.1:p.Arg418Gln
NP_001394770.1:p.Arg418Gln
NP_001394771.1:p.Arg418Gln
NP_001394772.1:p.Arg418Gln
NP_001394773.1:p.Arg418Gln
NP_001394774.1:p.Arg418Gln
NP_001394775.1:p.Arg418Gln
NP_001394776.1:p.Arg418Gln
NP_001394777.1:p.Arg418Gln
NP_001394778.1:p.Arg418Gln
NP_001394779.1:p.Arg419Gln
NP_001394780.1:p.Arg419Gln
NP_001394781.1:p.Arg419Gln
NP_001394782.1:p.Arg395Gln
NP_001394783.1:p.Arg466Gln
NP_001394787.1:p.Arg466Gln
NP_001394788.1:p.Arg466Gln
NP_001394789.1:p.Arg465Gln
NP_001394790.1:p.Arg465Gln
NP_001394791.1:p.Arg399Gln
NP_001394792.1:p.Arg425Gln
NP_001394803.1:p.Arg398Gln
NP_001394804.1:p.Arg398Gln
NP_001394808.1:p.Arg396Gln
NP_001394810.1:p.Arg396Gln
NP_001394811.1:p.Arg396Gln
NP_001394813.1:p.Arg396Gln
NP_001394814.1:p.Arg396Gln
NP_001394815.1:p.Arg396Gln
NP_001394816.1:p.Arg396Gln
NP_001394818.1:p.Arg396Gln
NP_001394823.1:p.Arg395Gln
NP_001394824.1:p.Arg395Gln
NP_001394825.1:p.Arg395Gln
NP_001394826.1:p.Arg395Gln
NP_001394827.1:p.Arg395Gln
NP_001394828.1:p.Arg395Gln
NP_001394829.1:p.Arg396Gln
NP_001394831.1:p.Arg396Gln
NP_001394833.1:p.Arg396Gln
NP_001394835.1:p.Arg396Gln
NP_001394836.1:p.Arg396Gln
NP_001394837.1:p.Arg396Gln
NP_001394838.1:p.Arg396Gln
NP_001394839.1:p.Arg396Gln
NP_001394844.1:p.Arg395Gln
NP_001394845.1:p.Arg395Gln
NP_001394846.1:p.Arg395Gln
NP_001394847.1:p.Arg395Gln
NP_001394848.1:p.Arg425Gln
NP_001394849.1:p.Arg378Gln
NP_001394850.1:p.Arg378Gln
NP_001394851.1:p.Arg378Gln
NP_001394852.1:p.Arg378Gln
NP_001394853.1:p.Arg378Gln
NP_001394854.1:p.Arg378Gln
NP_001394855.1:p.Arg378Gln
NP_001394856.1:p.Arg378Gln
NP_001394857.1:p.Arg378Gln
NP_001394858.1:p.Arg378Gln
NP_001394859.1:p.Arg377Gln
NP_001394860.1:p.Arg377Gln
NP_001394861.1:p.Arg377Gln
NP_001394862.1:p.Arg378Gln
NP_001394863.1:p.Arg377Gln
NP_001394864.1:p.Arg378Gln
NP_001394865.1:p.Arg377Gln
NP_001394866.1:p.Arg425Gln
NP_001394867.1:p.Arg425Gln
NP_001394868.1:p.Arg425Gln
NP_001394869.1:p.Arg424Gln
NP_001394870.1:p.Arg424Gln
NP_001394871.1:p.Arg419Gln
NP_001394872.1:p.Arg418Gln
NP_001394873.1:p.Arg419Gln
NP_001394874.1:p.Arg419Gln
NP_001394875.1:p.Arg355Gln
NP_001394876.1:p.Arg355Gln
NP_001394877.1:p.Arg355Gln
NP_001394878.1:p.Arg355Gln
NP_001394879.1:p.Arg355Gln
NP_001394880.1:p.Arg355Gln
NP_001394881.1:p.Arg355Gln
NP_001394882.1:p.Arg355Gln
NP_001394883.1:p.Arg354Gln
NP_001394884.1:p.Arg354Gln
NP_001394885.1:p.Arg354Gln
NP_001394886.1:p.Arg355Gln
NP_001394887.1:p.Arg354Gln
NP_001394888.1:p.Arg339Gln
NP_001394889.1:p.Arg339Gln
NP_001394891.1:p.Arg338Gln
NP_001394892.1:p.Arg339Gln
NP_001394893.1:p.Arg418Gln
NP_001394894.1:p.Arg298Gln
NP_001394895.1:p.Arg170Gln
NP_001394896.1:p.Arg170Gln
NP_009225.1:p.Arg466Gln
NP_009225.1:p.Arg466Gln
NP_009228.2:p.Arg419Gln
NP_009231.2:p.Arg466Gln
LRG_292t1:c.1397G>A
LRG_292:g.123850G>A
LRG_292p1:p.Arg466Gln
NC_000017.10:g.41246151C>T
NM_007294.3:c.1397G>A
NM_007300.3:c.1397G>A
NR_027676.1:n.1533G>A
p.R466Q

Nucleotide change:

1516G>A

Protein change:

R170Q

Links:

dbSNP: rs199540030

NCBI 1000 Genomes Browser:

rs199540030

Molecular consequence:

NM_001407968.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+607G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000187345	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (May 9, 2019)	germline	clinical testing	Citation Link,
SCV000911275	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 14, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002538021	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (May 17, 2021)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV003851322	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Zuntini R, Ferrari S, Bonora E, Buscherini F, Bertonazzi B, Grippa M, Godino L, Miccoli S, Turchetti D.

Front Genet. 2018;9:378. doi: 10.3389/fgene.2018.00378.

PubMed [citation]

PMID:: 30254663
PMCID:: PMC6141711

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000187345.7

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000911275.1

#	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 Sema4, Sema4, SCV002538021.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003851322.1

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

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine