NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (5 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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

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

Record status:: current
Accession:: RCV000030971.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)]

NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)

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.1105G>A (p.Asp369Asn)

HGVS:

NC_000017.11:g.43094426C>T
NG_005905.2:g.123558G>A
NM_001407571.1:c.892G>A
NM_001407581.1:c.1105G>A
NM_001407582.1:c.1105G>A
NM_001407583.1:c.1105G>A
NM_001407585.1:c.1105G>A
NM_001407587.1:c.1102G>A
NM_001407590.1:c.1102G>A
NM_001407591.1:c.1102G>A
NM_001407593.1:c.1105G>A
NM_001407594.1:c.1105G>A
NM_001407596.1:c.1105G>A
NM_001407597.1:c.1105G>A
NM_001407598.1:c.1105G>A
NM_001407602.1:c.1105G>A
NM_001407603.1:c.1105G>A
NM_001407605.1:c.1105G>A
NM_001407610.1:c.1102G>A
NM_001407611.1:c.1102G>A
NM_001407612.1:c.1102G>A
NM_001407613.1:c.1102G>A
NM_001407614.1:c.1102G>A
NM_001407615.1:c.1102G>A
NM_001407616.1:c.1105G>A
NM_001407617.1:c.1105G>A
NM_001407618.1:c.1105G>A
NM_001407619.1:c.1105G>A
NM_001407620.1:c.1105G>A
NM_001407621.1:c.1105G>A
NM_001407622.1:c.1105G>A
NM_001407623.1:c.1105G>A
NM_001407624.1:c.1105G>A
NM_001407625.1:c.1105G>A
NM_001407626.1:c.1105G>A
NM_001407627.1:c.1102G>A
NM_001407628.1:c.1102G>A
NM_001407629.1:c.1102G>A
NM_001407630.1:c.1102G>A
NM_001407631.1:c.1102G>A
NM_001407632.1:c.1102G>A
NM_001407633.1:c.1102G>A
NM_001407634.1:c.1102G>A
NM_001407635.1:c.1102G>A
NM_001407636.1:c.1102G>A
NM_001407637.1:c.1102G>A
NM_001407638.1:c.1102G>A
NM_001407639.1:c.1105G>A
NM_001407640.1:c.1105G>A
NM_001407641.1:c.1105G>A
NM_001407642.1:c.1105G>A
NM_001407644.1:c.1102G>A
NM_001407645.1:c.1102G>A
NM_001407646.1:c.1096G>A
NM_001407647.1:c.1096G>A
NM_001407648.1:c.982G>A
NM_001407649.1:c.979G>A
NM_001407652.1:c.1105G>A
NM_001407653.1:c.1027G>A
NM_001407654.1:c.1027G>A
NM_001407655.1:c.1027G>A
NM_001407656.1:c.1027G>A
NM_001407657.1:c.1027G>A
NM_001407658.1:c.1027G>A
NM_001407659.1:c.1024G>A
NM_001407660.1:c.1024G>A
NM_001407661.1:c.1024G>A
NM_001407662.1:c.1024G>A
NM_001407663.1:c.1027G>A
NM_001407664.1:c.982G>A
NM_001407665.1:c.982G>A
NM_001407666.1:c.982G>A
NM_001407667.1:c.982G>A
NM_001407668.1:c.982G>A
NM_001407669.1:c.982G>A
NM_001407670.1:c.979G>A
NM_001407671.1:c.979G>A
NM_001407672.1:c.979G>A
NM_001407673.1:c.979G>A
NM_001407674.1:c.982G>A
NM_001407675.1:c.982G>A
NM_001407676.1:c.982G>A
NM_001407677.1:c.982G>A
NM_001407678.1:c.982G>A
NM_001407679.1:c.982G>A
NM_001407680.1:c.982G>A
NM_001407681.1:c.982G>A
NM_001407682.1:c.982G>A
NM_001407683.1:c.982G>A
NM_001407684.1:c.1105G>A
NM_001407685.1:c.979G>A
NM_001407686.1:c.979G>A
NM_001407687.1:c.979G>A
NM_001407688.1:c.979G>A
NM_001407689.1:c.979G>A
NM_001407690.1:c.979G>A
NM_001407691.1:c.979G>A
NM_001407692.1:c.964G>A
NM_001407694.1:c.964G>A
NM_001407695.1:c.964G>A
NM_001407696.1:c.964G>A
NM_001407697.1:c.964G>A
NM_001407698.1:c.964G>A
NM_001407724.1:c.964G>A
NM_001407725.1:c.964G>A
NM_001407726.1:c.964G>A
NM_001407727.1:c.964G>A
NM_001407728.1:c.964G>A
NM_001407729.1:c.964G>A
NM_001407730.1:c.964G>A
NM_001407731.1:c.964G>A
NM_001407732.1:c.964G>A
NM_001407733.1:c.964G>A
NM_001407734.1:c.964G>A
NM_001407735.1:c.964G>A
NM_001407736.1:c.964G>A
NM_001407737.1:c.964G>A
NM_001407738.1:c.964G>A
NM_001407739.1:c.964G>A
NM_001407740.1:c.961G>A
NM_001407741.1:c.961G>A
NM_001407742.1:c.961G>A
NM_001407743.1:c.961G>A
NM_001407744.1:c.961G>A
NM_001407745.1:c.961G>A
NM_001407746.1:c.961G>A
NM_001407747.1:c.961G>A
NM_001407748.1:c.961G>A
NM_001407749.1:c.961G>A
NM_001407750.1:c.964G>A
NM_001407751.1:c.964G>A
NM_001407752.1:c.964G>A
NM_001407838.1:c.961G>A
NM_001407839.1:c.961G>A
NM_001407841.1:c.961G>A
NM_001407842.1:c.961G>A
NM_001407843.1:c.961G>A
NM_001407844.1:c.961G>A
NM_001407845.1:c.961G>A
NM_001407846.1:c.961G>A
NM_001407847.1:c.961G>A
NM_001407848.1:c.961G>A
NM_001407849.1:c.961G>A
NM_001407850.1:c.964G>A
NM_001407851.1:c.964G>A
NM_001407852.1:c.964G>A
NM_001407853.1:c.892G>A
NM_001407854.1:c.1105G>A
NM_001407858.1:c.1105G>A
NM_001407859.1:c.1105G>A
NM_001407860.1:c.1102G>A
NM_001407861.1:c.1102G>A
NM_001407862.1:c.904G>A
NM_001407863.1:c.982G>A
NM_001407874.1:c.901G>A
NM_001407875.1:c.901G>A
NM_001407879.1:c.895G>A
NM_001407881.1:c.895G>A
NM_001407882.1:c.895G>A
NM_001407884.1:c.895G>A
NM_001407885.1:c.895G>A
NM_001407886.1:c.895G>A
NM_001407887.1:c.895G>A
NM_001407889.1:c.895G>A
NM_001407894.1:c.892G>A
NM_001407895.1:c.892G>A
NM_001407896.1:c.892G>A
NM_001407897.1:c.892G>A
NM_001407898.1:c.892G>A
NM_001407899.1:c.892G>A
NM_001407900.1:c.895G>A
NM_001407902.1:c.895G>A
NM_001407904.1:c.895G>A
NM_001407906.1:c.895G>A
NM_001407907.1:c.895G>A
NM_001407908.1:c.895G>A
NM_001407909.1:c.895G>A
NM_001407910.1:c.895G>A
NM_001407915.1:c.892G>A
NM_001407916.1:c.892G>A
NM_001407917.1:c.892G>A
NM_001407918.1:c.892G>A
NM_001407919.1:c.982G>A
NM_001407920.1:c.841G>A
NM_001407921.1:c.841G>A
NM_001407922.1:c.841G>A
NM_001407923.1:c.841G>A
NM_001407924.1:c.841G>A
NM_001407925.1:c.841G>A
NM_001407926.1:c.841G>A
NM_001407927.1:c.841G>A
NM_001407928.1:c.841G>A
NM_001407929.1:c.841G>A
NM_001407930.1:c.838G>A
NM_001407931.1:c.838G>A
NM_001407932.1:c.838G>A
NM_001407933.1:c.841G>A
NM_001407934.1:c.838G>A
NM_001407935.1:c.841G>A
NM_001407936.1:c.838G>A
NM_001407937.1:c.982G>A
NM_001407938.1:c.982G>A
NM_001407939.1:c.982G>A
NM_001407940.1:c.979G>A
NM_001407941.1:c.979G>A
NM_001407942.1:c.964G>A
NM_001407943.1:c.961G>A
NM_001407944.1:c.964G>A
NM_001407945.1:c.964G>A
NM_001407946.1:c.772G>A
NM_001407947.1:c.772G>A
NM_001407948.1:c.772G>A
NM_001407949.1:c.772G>A
NM_001407950.1:c.772G>A
NM_001407951.1:c.772G>A
NM_001407952.1:c.772G>A
NM_001407953.1:c.772G>A
NM_001407954.1:c.769G>A
NM_001407955.1:c.769G>A
NM_001407956.1:c.769G>A
NM_001407957.1:c.772G>A
NM_001407958.1:c.769G>A
NM_001407959.1:c.724G>A
NM_001407960.1:c.724G>A
NM_001407962.1:c.721G>A
NM_001407963.1:c.724G>A
NM_001407964.1:c.961G>A
NM_001407965.1:c.601G>A
NM_001407966.1:c.217G>A
NM_001407967.1:c.217G>A
NM_001407968.1:c.787+318G>A
NM_001407969.1:c.787+318G>A
NM_001407970.1:c.787+318G>A
NM_001407971.1:c.787+318G>A
NM_001407972.1:c.784+318G>A
NM_001407973.1:c.787+318G>A
NM_001407974.1:c.787+318G>A
NM_001407975.1:c.787+318G>A
NM_001407976.1:c.787+318G>A
NM_001407977.1:c.787+318G>A
NM_001407978.1:c.787+318G>A
NM_001407979.1:c.787+318G>A
NM_001407980.1:c.787+318G>A
NM_001407981.1:c.787+318G>A
NM_001407982.1:c.787+318G>A
NM_001407983.1:c.787+318G>A
NM_001407984.1:c.784+318G>A
NM_001407985.1:c.784+318G>A
NM_001407986.1:c.784+318G>A
NM_001407990.1:c.787+318G>A
NM_001407991.1:c.784+318G>A
NM_001407992.1:c.784+318G>A
NM_001407993.1:c.787+318G>A
NM_001408392.1:c.784+318G>A
NM_001408396.1:c.784+318G>A
NM_001408397.1:c.784+318G>A
NM_001408398.1:c.784+318G>A
NM_001408399.1:c.784+318G>A
NM_001408400.1:c.784+318G>A
NM_001408401.1:c.784+318G>A
NM_001408402.1:c.784+318G>A
NM_001408403.1:c.787+318G>A
NM_001408404.1:c.787+318G>A
NM_001408406.1:c.790+315G>A
NM_001408407.1:c.784+318G>A
NM_001408408.1:c.778+318G>A
NM_001408409.1:c.709+318G>A
NM_001408410.1:c.646+318G>A
NM_001408411.1:c.709+318G>A
NM_001408412.1:c.709+318G>A
NM_001408413.1:c.706+318G>A
NM_001408414.1:c.709+318G>A
NM_001408415.1:c.709+318G>A
NM_001408416.1:c.706+318G>A
NM_001408418.1:c.670+1420G>A
NM_001408419.1:c.670+1420G>A
NM_001408420.1:c.670+1420G>A
NM_001408421.1:c.667+1420G>A
NM_001408422.1:c.670+1420G>A
NM_001408423.1:c.670+1420G>A
NM_001408424.1:c.667+1420G>A
NM_001408425.1:c.664+318G>A
NM_001408426.1:c.664+318G>A
NM_001408427.1:c.664+318G>A
NM_001408428.1:c.664+318G>A
NM_001408429.1:c.664+318G>A
NM_001408430.1:c.664+318G>A
NM_001408431.1:c.667+1420G>A
NM_001408432.1:c.661+318G>A
NM_001408433.1:c.661+318G>A
NM_001408434.1:c.661+318G>A
NM_001408435.1:c.661+318G>A
NM_001408436.1:c.664+318G>A
NM_001408437.1:c.664+318G>A
NM_001408438.1:c.664+318G>A
NM_001408439.1:c.664+318G>A
NM_001408440.1:c.664+318G>A
NM_001408441.1:c.664+318G>A
NM_001408442.1:c.664+318G>A
NM_001408443.1:c.664+318G>A
NM_001408444.1:c.664+318G>A
NM_001408445.1:c.661+318G>A
NM_001408446.1:c.661+318G>A
NM_001408447.1:c.661+318G>A
NM_001408448.1:c.661+318G>A
NM_001408450.1:c.661+318G>A
NM_001408451.1:c.652+318G>A
NM_001408452.1:c.646+318G>A
NM_001408453.1:c.646+318G>A
NM_001408454.1:c.646+318G>A
NM_001408455.1:c.646+318G>A
NM_001408456.1:c.646+318G>A
NM_001408457.1:c.646+318G>A
NM_001408458.1:c.646+318G>A
NM_001408459.1:c.646+318G>A
NM_001408460.1:c.646+318G>A
NM_001408461.1:c.646+318G>A
NM_001408462.1:c.643+318G>A
NM_001408463.1:c.643+318G>A
NM_001408464.1:c.643+318G>A
NM_001408465.1:c.643+318G>A
NM_001408466.1:c.646+318G>A
NM_001408467.1:c.646+318G>A
NM_001408468.1:c.643+318G>A
NM_001408469.1:c.646+318G>A
NM_001408470.1:c.643+318G>A
NM_001408472.1:c.787+318G>A
NM_001408473.1:c.784+318G>A
NM_001408474.1:c.586+318G>A
NM_001408475.1:c.583+318G>A
NM_001408476.1:c.586+318G>A
NM_001408478.1:c.577+318G>A
NM_001408479.1:c.577+318G>A
NM_001408480.1:c.577+318G>A
NM_001408481.1:c.577+318G>A
NM_001408482.1:c.577+318G>A
NM_001408483.1:c.577+318G>A
NM_001408484.1:c.577+318G>A
NM_001408485.1:c.577+318G>A
NM_001408489.1:c.577+318G>A
NM_001408490.1:c.574+318G>A
NM_001408491.1:c.574+318G>A
NM_001408492.1:c.577+318G>A
NM_001408493.1:c.574+318G>A
NM_001408494.1:c.548-3394G>A
NM_001408495.1:c.545-3394G>A
NM_001408496.1:c.523+318G>A
NM_001408497.1:c.523+318G>A
NM_001408498.1:c.523+318G>A
NM_001408499.1:c.523+318G>A
NM_001408500.1:c.523+318G>A
NM_001408501.1:c.523+318G>A
NM_001408502.1:c.454+318G>A
NM_001408503.1:c.520+318G>A
NM_001408504.1:c.520+318G>A
NM_001408505.1:c.520+318G>A
NM_001408506.1:c.460+1420G>A
NM_001408507.1:c.460+1420G>A
NM_001408508.1:c.451+318G>A
NM_001408509.1:c.451+318G>A
NM_001408510.1:c.406+318G>A
NM_001408511.1:c.404-3394G>A
NM_001408512.1:c.283+318G>A
NM_001408513.1:c.577+318G>A
NM_001408514.1:c.577+318G>A
NM_007294.4:c.1105G>AMANE SELECT
NM_007297.4:c.964G>A
NM_007298.4:c.787+318G>A
NM_007299.4:c.787+318G>A
NM_007300.4:c.1105G>A
NP_001394500.1:p.Asp298Asn
NP_001394510.1:p.Asp369Asn
NP_001394511.1:p.Asp369Asn
NP_001394512.1:p.Asp369Asn
NP_001394514.1:p.Asp369Asn
NP_001394516.1:p.Asp368Asn
NP_001394519.1:p.Asp368Asn
NP_001394520.1:p.Asp368Asn
NP_001394522.1:p.Asp369Asn
NP_001394523.1:p.Asp369Asn
NP_001394525.1:p.Asp369Asn
NP_001394526.1:p.Asp369Asn
NP_001394527.1:p.Asp369Asn
NP_001394531.1:p.Asp369Asn
NP_001394532.1:p.Asp369Asn
NP_001394534.1:p.Asp369Asn
NP_001394539.1:p.Asp368Asn
NP_001394540.1:p.Asp368Asn
NP_001394541.1:p.Asp368Asn
NP_001394542.1:p.Asp368Asn
NP_001394543.1:p.Asp368Asn
NP_001394544.1:p.Asp368Asn
NP_001394545.1:p.Asp369Asn
NP_001394546.1:p.Asp369Asn
NP_001394547.1:p.Asp369Asn
NP_001394548.1:p.Asp369Asn
NP_001394549.1:p.Asp369Asn
NP_001394550.1:p.Asp369Asn
NP_001394551.1:p.Asp369Asn
NP_001394552.1:p.Asp369Asn
NP_001394553.1:p.Asp369Asn
NP_001394554.1:p.Asp369Asn
NP_001394555.1:p.Asp369Asn
NP_001394556.1:p.Asp368Asn
NP_001394557.1:p.Asp368Asn
NP_001394558.1:p.Asp368Asn
NP_001394559.1:p.Asp368Asn
NP_001394560.1:p.Asp368Asn
NP_001394561.1:p.Asp368Asn
NP_001394562.1:p.Asp368Asn
NP_001394563.1:p.Asp368Asn
NP_001394564.1:p.Asp368Asn
NP_001394565.1:p.Asp368Asn
NP_001394566.1:p.Asp368Asn
NP_001394567.1:p.Asp368Asn
NP_001394568.1:p.Asp369Asn
NP_001394569.1:p.Asp369Asn
NP_001394570.1:p.Asp369Asn
NP_001394571.1:p.Asp369Asn
NP_001394573.1:p.Asp368Asn
NP_001394574.1:p.Asp368Asn
NP_001394575.1:p.Asp366Asn
NP_001394576.1:p.Asp366Asn
NP_001394577.1:p.Asp328Asn
NP_001394578.1:p.Asp327Asn
NP_001394581.1:p.Asp369Asn
NP_001394582.1:p.Asp343Asn
NP_001394583.1:p.Asp343Asn
NP_001394584.1:p.Asp343Asn
NP_001394585.1:p.Asp343Asn
NP_001394586.1:p.Asp343Asn
NP_001394587.1:p.Asp343Asn
NP_001394588.1:p.Asp342Asn
NP_001394589.1:p.Asp342Asn
NP_001394590.1:p.Asp342Asn
NP_001394591.1:p.Asp342Asn
NP_001394592.1:p.Asp343Asn
NP_001394593.1:p.Asp328Asn
NP_001394594.1:p.Asp328Asn
NP_001394595.1:p.Asp328Asn
NP_001394596.1:p.Asp328Asn
NP_001394597.1:p.Asp328Asn
NP_001394598.1:p.Asp328Asn
NP_001394599.1:p.Asp327Asn
NP_001394600.1:p.Asp327Asn
NP_001394601.1:p.Asp327Asn
NP_001394602.1:p.Asp327Asn
NP_001394603.1:p.Asp328Asn
NP_001394604.1:p.Asp328Asn
NP_001394605.1:p.Asp328Asn
NP_001394606.1:p.Asp328Asn
NP_001394607.1:p.Asp328Asn
NP_001394608.1:p.Asp328Asn
NP_001394609.1:p.Asp328Asn
NP_001394610.1:p.Asp328Asn
NP_001394611.1:p.Asp328Asn
NP_001394612.1:p.Asp328Asn
NP_001394613.1:p.Asp369Asn
NP_001394614.1:p.Asp327Asn
NP_001394615.1:p.Asp327Asn
NP_001394616.1:p.Asp327Asn
NP_001394617.1:p.Asp327Asn
NP_001394618.1:p.Asp327Asn
NP_001394619.1:p.Asp327Asn
NP_001394620.1:p.Asp327Asn
NP_001394621.1:p.Asp322Asn
NP_001394623.1:p.Asp322Asn
NP_001394624.1:p.Asp322Asn
NP_001394625.1:p.Asp322Asn
NP_001394626.1:p.Asp322Asn
NP_001394627.1:p.Asp322Asn
NP_001394653.1:p.Asp322Asn
NP_001394654.1:p.Asp322Asn
NP_001394655.1:p.Asp322Asn
NP_001394656.1:p.Asp322Asn
NP_001394657.1:p.Asp322Asn
NP_001394658.1:p.Asp322Asn
NP_001394659.1:p.Asp322Asn
NP_001394660.1:p.Asp322Asn
NP_001394661.1:p.Asp322Asn
NP_001394662.1:p.Asp322Asn
NP_001394663.1:p.Asp322Asn
NP_001394664.1:p.Asp322Asn
NP_001394665.1:p.Asp322Asn
NP_001394666.1:p.Asp322Asn
NP_001394667.1:p.Asp322Asn
NP_001394668.1:p.Asp322Asn
NP_001394669.1:p.Asp321Asn
NP_001394670.1:p.Asp321Asn
NP_001394671.1:p.Asp321Asn
NP_001394672.1:p.Asp321Asn
NP_001394673.1:p.Asp321Asn
NP_001394674.1:p.Asp321Asn
NP_001394675.1:p.Asp321Asn
NP_001394676.1:p.Asp321Asn
NP_001394677.1:p.Asp321Asn
NP_001394678.1:p.Asp321Asn
NP_001394679.1:p.Asp322Asn
NP_001394680.1:p.Asp322Asn
NP_001394681.1:p.Asp322Asn
NP_001394767.1:p.Asp321Asn
NP_001394768.1:p.Asp321Asn
NP_001394770.1:p.Asp321Asn
NP_001394771.1:p.Asp321Asn
NP_001394772.1:p.Asp321Asn
NP_001394773.1:p.Asp321Asn
NP_001394774.1:p.Asp321Asn
NP_001394775.1:p.Asp321Asn
NP_001394776.1:p.Asp321Asn
NP_001394777.1:p.Asp321Asn
NP_001394778.1:p.Asp321Asn
NP_001394779.1:p.Asp322Asn
NP_001394780.1:p.Asp322Asn
NP_001394781.1:p.Asp322Asn
NP_001394782.1:p.Asp298Asn
NP_001394783.1:p.Asp369Asn
NP_001394787.1:p.Asp369Asn
NP_001394788.1:p.Asp369Asn
NP_001394789.1:p.Asp368Asn
NP_001394790.1:p.Asp368Asn
NP_001394791.1:p.Asp302Asn
NP_001394792.1:p.Asp328Asn
NP_001394803.1:p.Asp301Asn
NP_001394804.1:p.Asp301Asn
NP_001394808.1:p.Asp299Asn
NP_001394810.1:p.Asp299Asn
NP_001394811.1:p.Asp299Asn
NP_001394813.1:p.Asp299Asn
NP_001394814.1:p.Asp299Asn
NP_001394815.1:p.Asp299Asn
NP_001394816.1:p.Asp299Asn
NP_001394818.1:p.Asp299Asn
NP_001394823.1:p.Asp298Asn
NP_001394824.1:p.Asp298Asn
NP_001394825.1:p.Asp298Asn
NP_001394826.1:p.Asp298Asn
NP_001394827.1:p.Asp298Asn
NP_001394828.1:p.Asp298Asn
NP_001394829.1:p.Asp299Asn
NP_001394831.1:p.Asp299Asn
NP_001394833.1:p.Asp299Asn
NP_001394835.1:p.Asp299Asn
NP_001394836.1:p.Asp299Asn
NP_001394837.1:p.Asp299Asn
NP_001394838.1:p.Asp299Asn
NP_001394839.1:p.Asp299Asn
NP_001394844.1:p.Asp298Asn
NP_001394845.1:p.Asp298Asn
NP_001394846.1:p.Asp298Asn
NP_001394847.1:p.Asp298Asn
NP_001394848.1:p.Asp328Asn
NP_001394849.1:p.Asp281Asn
NP_001394850.1:p.Asp281Asn
NP_001394851.1:p.Asp281Asn
NP_001394852.1:p.Asp281Asn
NP_001394853.1:p.Asp281Asn
NP_001394854.1:p.Asp281Asn
NP_001394855.1:p.Asp281Asn
NP_001394856.1:p.Asp281Asn
NP_001394857.1:p.Asp281Asn
NP_001394858.1:p.Asp281Asn
NP_001394859.1:p.Asp280Asn
NP_001394860.1:p.Asp280Asn
NP_001394861.1:p.Asp280Asn
NP_001394862.1:p.Asp281Asn
NP_001394863.1:p.Asp280Asn
NP_001394864.1:p.Asp281Asn
NP_001394865.1:p.Asp280Asn
NP_001394866.1:p.Asp328Asn
NP_001394867.1:p.Asp328Asn
NP_001394868.1:p.Asp328Asn
NP_001394869.1:p.Asp327Asn
NP_001394870.1:p.Asp327Asn
NP_001394871.1:p.Asp322Asn
NP_001394872.1:p.Asp321Asn
NP_001394873.1:p.Asp322Asn
NP_001394874.1:p.Asp322Asn
NP_001394875.1:p.Asp258Asn
NP_001394876.1:p.Asp258Asn
NP_001394877.1:p.Asp258Asn
NP_001394878.1:p.Asp258Asn
NP_001394879.1:p.Asp258Asn
NP_001394880.1:p.Asp258Asn
NP_001394881.1:p.Asp258Asn
NP_001394882.1:p.Asp258Asn
NP_001394883.1:p.Asp257Asn
NP_001394884.1:p.Asp257Asn
NP_001394885.1:p.Asp257Asn
NP_001394886.1:p.Asp258Asn
NP_001394887.1:p.Asp257Asn
NP_001394888.1:p.Asp242Asn
NP_001394889.1:p.Asp242Asn
NP_001394891.1:p.Asp241Asn
NP_001394892.1:p.Asp242Asn
NP_001394893.1:p.Asp321Asn
NP_001394894.1:p.Asp201Asn
NP_001394895.1:p.Asp73Asn
NP_001394896.1:p.Asp73Asn
NP_009225.1:p.Asp369Asn
NP_009225.1:p.Asp369Asn
NP_009228.2:p.Asp322Asn
NP_009231.2:p.Asp369Asn
LRG_292t1:c.1105G>A
LRG_292:g.123558G>A
LRG_292p1:p.Asp369Asn
NC_000017.10:g.41246443C>T
NM_007294.3:c.1105G>A
NR_027676.1:n.1241G>A
U14680.1:n.1224G>A
p.D369N

Nucleotide change:

1224G>A

Protein change:

D201N

Links:

BRCA1-HCI: BRCA1_00061; dbSNP: rs56056711

NCBI 1000 Genomes Browser:

rs56056711

Molecular consequence:

NM_001407968.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+315G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3394G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3394G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1420G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3394G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+318G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053562	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Likely benign (Jan 28, 2012)	germline	clinical testing
SCV000144010	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000244294	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000785357	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Jul 12, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16267036, 17924331, 22476429 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV000863595	Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Likely benign	unknown	clinical testing

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	curation
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
Western European	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
Western European, French Canadian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, French, Canadian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]

PMID:: 21990134
PMCID:: PMC3242438

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053562.3

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

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144010.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	Western European	3	not provided	not provided	clinical testing	not provided
4	Western European, French Canadian	1	not provided	not provided	clinical testing	not provided
5	Western European, French, Canadian	1	not provided	not provided	clinical testing	not provided
6	Western Europeanan, Central/Eastern European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244294.1

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000568

#	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 Counsyl, SCV000785357.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863595.2

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

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

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine