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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 stars
criteria provided, single submitter
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:
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
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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003923031Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(Mar 13, 2023)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003923031.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024