NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 13, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003226169.8
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
This HGVS expression did not pass validation- 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]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003923031 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Benign (Mar 13, 2023) | germline | clinical testing |
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 |
Citations
PubMed
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.
- PMID:
- 16267036
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.
- PMID:
- 21990134
- PMCID:
- PMC3242438
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003923031.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
Variant summary: BRCA1 c.1105G>A (p.Asp369Asn) results in a conservative amino acid change located in the BRCA1, serine-rich domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251130 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1105G>A has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A quantitative posterior probability model showed that posterior probability of being deleterious for this variant is 5.68x10e-6 (Lindor_2012). Six clinical diagnostic laboratories or submitters have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (Benign/likely benign n=5, VUS n=1), including an expert panel classified this variant as benign. Based on the evidence outlined above, the variant was classified as benign.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Nov 24, 2024