ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.130dup (p.Cys44fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.130dup (p.Cys44fs)
Variation ID: 96898 Accession: VCV000096898.3
- Type and length
-
Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43115729-43115730 (GRCh38) [ NCBI UCSC ] 17: 41267746-41267747 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 27, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.130dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys44fs frameshift NM_001407571.1:c.-62dup NM_001407581.1:c.127dup NP_001394510.1:p.Cys44Leufs frameshift NM_001407582.1:c.127dup NP_001394511.1:p.Cys44Leufs frameshift NM_001407583.1:c.127dup NP_001394512.1:p.Cys44Leufs frameshift NM_001407585.1:c.127dup NP_001394514.1:p.Cys44Leufs frameshift NM_001407587.1:c.127dup NP_001394516.1:p.Cys44Leufs frameshift NM_001407590.1:c.127dup NP_001394519.1:p.Cys44Leufs frameshift NM_001407591.1:c.127dup NP_001394520.1:p.Cys44Leufs frameshift NM_001407593.1:c.127dup NP_001394522.1:p.Cys44Leufs frameshift NM_001407594.1:c.127dup NP_001394523.1:p.Cys44Leufs frameshift NM_001407596.1:c.127dup NP_001394525.1:p.Cys44Leufs frameshift NM_001407597.1:c.127dup NP_001394526.1:p.Cys44Leufs frameshift NM_001407598.1:c.127dup NP_001394527.1:p.Cys44Leufs frameshift NM_001407602.1:c.127dup NP_001394531.1:p.Cys44Leufs frameshift NM_001407603.1:c.127dup NP_001394532.1:p.Cys44Leufs frameshift NM_001407605.1:c.127dup NP_001394534.1:p.Cys44Leufs frameshift NM_001407610.1:c.127dup NP_001394539.1:p.Cys44Leufs frameshift NM_001407611.1:c.127dup NP_001394540.1:p.Cys44Leufs frameshift NM_001407612.1:c.127dup NP_001394541.1:p.Cys44Leufs frameshift NM_001407613.1:c.127dup NP_001394542.1:p.Cys44Leufs frameshift NM_001407614.1:c.127dup NP_001394543.1:p.Cys44Leufs frameshift NM_001407615.1:c.127dup NP_001394544.1:p.Cys44Leufs frameshift NM_001407616.1:c.127dup NP_001394545.1:p.Cys44Leufs frameshift NM_001407617.1:c.127dup NP_001394546.1:p.Cys44Leufs frameshift NM_001407618.1:c.127dup NP_001394547.1:p.Cys44Leufs frameshift NM_001407619.1:c.127dup NP_001394548.1:p.Cys44Leufs frameshift NM_001407620.1:c.127dup NP_001394549.1:p.Cys44Leufs frameshift NM_001407621.1:c.127dup NP_001394550.1:p.Cys44Leufs frameshift NM_001407622.1:c.127dup NP_001394551.1:p.Cys44Leufs frameshift NM_001407623.1:c.127dup NP_001394552.1:p.Cys44Leufs frameshift NM_001407624.1:c.127dup NP_001394553.1:p.Cys44Leufs frameshift NM_001407625.1:c.127dup NP_001394554.1:p.Cys44Leufs frameshift NM_001407626.1:c.127dup NP_001394555.1:p.Cys44Leufs frameshift NM_001407627.1:c.127dup NP_001394556.1:p.Cys44Leufs frameshift NM_001407628.1:c.127dup NP_001394557.1:p.Cys44Leufs frameshift NM_001407629.1:c.127dup NP_001394558.1:p.Cys44Leufs frameshift NM_001407630.1:c.127dup NP_001394559.1:p.Cys44Leufs frameshift NM_001407631.1:c.127dup NP_001394560.1:p.Cys44Leufs frameshift NM_001407632.1:c.127dup NP_001394561.1:p.Cys44Leufs frameshift NM_001407633.1:c.127dup NP_001394562.1:p.Cys44Leufs frameshift NM_001407634.1:c.127dup NP_001394563.1:p.Cys44Leufs frameshift NM_001407635.1:c.127dup NP_001394564.1:p.Cys44Leufs frameshift NM_001407636.1:c.127dup NP_001394565.1:p.Cys44Leufs frameshift NM_001407637.1:c.127dup NP_001394566.1:p.Cys44Leufs frameshift NM_001407638.1:c.127dup NP_001394567.1:p.Cys44Leufs frameshift NM_001407639.1:c.127dup NP_001394568.1:p.Cys44Leufs frameshift NM_001407640.1:c.127dup NP_001394569.1:p.Cys44Leufs frameshift NM_001407641.1:c.127dup NP_001394570.1:p.Cys44Leufs frameshift NM_001407642.1:c.127dup NP_001394571.1:p.Cys44Leufs frameshift NM_001407644.1:c.127dup NP_001394573.1:p.Cys44Leufs frameshift NM_001407645.1:c.127dup NP_001394574.1:p.Cys44Leufs frameshift NM_001407646.1:c.127dup NP_001394575.1:p.Cys44Leufs frameshift NM_001407647.1:c.127dup NP_001394576.1:p.Cys44Leufs frameshift NM_001407648.1:c.127dup NP_001394577.1:p.Cys44Leufs frameshift NM_001407649.1:c.127dup NP_001394578.1:p.Cys44Leufs frameshift NM_001407652.1:c.127dup NP_001394581.1:p.Cys44Leufs frameshift NM_001407653.1:c.127dup NP_001394582.1:p.Cys44Leufs frameshift NM_001407654.1:c.127dup NP_001394583.1:p.Cys44Leufs frameshift NM_001407655.1:c.127dup NP_001394584.1:p.Cys44Leufs frameshift NM_001407656.1:c.127dup NP_001394585.1:p.Cys44Leufs frameshift NM_001407657.1:c.127dup NP_001394586.1:p.Cys44Leufs frameshift NM_001407658.1:c.127dup NP_001394587.1:p.Cys44Leufs frameshift NM_001407659.1:c.127dup NP_001394588.1:p.Cys44Leufs frameshift NM_001407660.1:c.127dup NP_001394589.1:p.Cys44Leufs frameshift NM_001407661.1:c.127dup NP_001394590.1:p.Cys44Leufs frameshift NM_001407662.1:c.127dup NP_001394591.1:p.Cys44Leufs frameshift NM_001407663.1:c.127dup NP_001394592.1:p.Cys44Leufs frameshift NM_001407664.1:c.127dup NP_001394593.1:p.Cys44Leufs frameshift NM_001407665.1:c.127dup NP_001394594.1:p.Cys44Leufs frameshift NM_001407666.1:c.127dup NP_001394595.1:p.Cys44Leufs frameshift NM_001407667.1:c.127dup NP_001394596.1:p.Cys44Leufs frameshift NM_001407668.1:c.127dup NP_001394597.1:p.Cys44Leufs frameshift NM_001407669.1:c.127dup NP_001394598.1:p.Cys44Leufs frameshift NM_001407670.1:c.127dup NP_001394599.1:p.Cys44Leufs frameshift NM_001407671.1:c.127dup NP_001394600.1:p.Cys44Leufs frameshift NM_001407672.1:c.127dup NP_001394601.1:p.Cys44Leufs frameshift NM_001407673.1:c.127dup NP_001394602.1:p.Cys44Leufs frameshift NM_001407674.1:c.127dup NP_001394603.1:p.Cys44Leufs frameshift NM_001407675.1:c.127dup NP_001394604.1:p.Cys44Leufs frameshift NM_001407676.1:c.127dup NP_001394605.1:p.Cys44Leufs frameshift NM_001407677.1:c.127dup NP_001394606.1:p.Cys44Leufs frameshift NM_001407678.1:c.127dup NP_001394607.1:p.Cys44Leufs frameshift NM_001407679.1:c.127dup NP_001394608.1:p.Cys44Leufs frameshift NM_001407680.1:c.127dup NP_001394609.1:p.Cys44Leufs frameshift NM_001407681.1:c.127dup NP_001394610.1:p.Cys44Leufs frameshift NM_001407682.1:c.127dup NP_001394611.1:p.Cys44Leufs frameshift NM_001407683.1:c.127dup NP_001394612.1:p.Cys44Leufs frameshift NM_001407684.1:c.127dup NP_001394613.1:p.Cys44Leufs frameshift NM_001407685.1:c.127dup NP_001394614.1:p.Cys44Leufs frameshift NM_001407686.1:c.127dup NP_001394615.1:p.Cys44Leufs frameshift NM_001407687.1:c.127dup NP_001394616.1:p.Cys44Leufs frameshift NM_001407688.1:c.127dup NP_001394617.1:p.Cys44Leufs frameshift NM_001407689.1:c.127dup NP_001394618.1:p.Cys44Leufs frameshift NM_001407690.1:c.127dup NP_001394619.1:p.Cys44Leufs frameshift NM_001407691.1:c.127dup NP_001394620.1:p.Cys44Leufs frameshift NM_001407694.1:c.-131dup NM_001407695.1:c.-135dup NM_001407696.1:c.-131dup NM_001407697.1:c.-15dup NM_001407724.1:c.-131dup NM_001407725.1:c.-15dup NM_001407727.1:c.-131dup NM_001407728.1:c.-15dup NM_001407729.1:c.-15dup NM_001407730.1:c.-15dup NM_001407731.1:c.-131dup NM_001407733.1:c.-131dup NM_001407734.1:c.-15dup NM_001407735.1:c.-15dup NM_001407737.1:c.-15dup NM_001407739.1:c.-15dup NM_001407740.1:c.-15dup NM_001407741.1:c.-15dup NM_001407743.1:c.-15dup NM_001407745.1:c.-15dup NM_001407746.1:c.-131dup NM_001407748.1:c.-15dup NM_001407749.1:c.-131dup NM_001407752.1:c.-15dup NM_001407838.1:c.-15dup NM_001407839.1:c.-15dup NM_001407841.1:c.-11dup NM_001407842.1:c.-131dup NM_001407843.1:c.-131dup NM_001407844.1:c.-15dup NM_001407846.1:c.-15dup NM_001407847.1:c.-15dup NM_001407848.1:c.-15dup NM_001407850.1:c.-15dup NM_001407851.1:c.-15dup NM_001407853.1:c.-62dup NM_001407854.1:c.127dup NP_001394783.1:p.Cys44Leufs frameshift NM_001407858.1:c.127dup NP_001394787.1:p.Cys44Leufs frameshift NM_001407859.1:c.127dup NP_001394788.1:p.Cys44Leufs frameshift NM_001407860.1:c.127dup NP_001394789.1:p.Cys44Leufs frameshift NM_001407861.1:c.127dup NP_001394790.1:p.Cys44Leufs frameshift NM_001407862.1:c.127dup NP_001394791.1:p.Cys44Leufs frameshift NM_001407863.1:c.127dup NP_001394792.1:p.Cys44Leufs frameshift NM_001407874.1:c.127dup NP_001394803.1:p.Cys44Leufs frameshift NM_001407875.1:c.127dup NP_001394804.1:p.Cys44Leufs frameshift NM_001407879.1:c.-62dup NM_001407882.1:c.-62dup NM_001407884.1:c.-62dup NM_001407885.1:c.-62dup NM_001407886.1:c.-62dup NM_001407887.1:c.-62dup NM_001407889.1:c.-178dup NM_001407894.1:c.-62dup NM_001407895.1:c.-62dup NM_001407896.1:c.-62dup NM_001407897.1:c.-62dup NM_001407899.1:c.-62dup NM_001407900.1:c.-178dup NM_001407904.1:c.-62dup NM_001407906.1:c.-62dup NM_001407907.1:c.-62dup NM_001407908.1:c.-62dup NM_001407909.1:c.-62dup NM_001407910.1:c.-62dup NM_001407915.1:c.-62dup NM_001407916.1:c.-62dup NM_001407917.1:c.-62dup NM_001407918.1:c.-62dup NM_001407919.1:c.127dup NP_001394848.1:p.Cys44Leufs frameshift NM_001407920.1:c.-15dup NM_001407921.1:c.-15dup NM_001407922.1:c.-15dup NM_001407923.1:c.-15dup NM_001407926.1:c.-15dup NM_001407927.1:c.-15dup NM_001407930.1:c.-131dup NM_001407933.1:c.-15dup NM_001407934.1:c.-15dup NM_001407935.1:c.-15dup NM_001407937.1:c.127dup NP_001394866.1:p.Cys44Leufs frameshift NM_001407938.1:c.127dup NP_001394867.1:p.Cys44Leufs frameshift NM_001407939.1:c.127dup NP_001394868.1:p.Cys44Leufs frameshift NM_001407940.1:c.127dup NP_001394869.1:p.Cys44Leufs frameshift NM_001407941.1:c.127dup NP_001394870.1:p.Cys44Leufs frameshift NM_001407942.1:c.-131dup NM_001407943.1:c.-15dup NM_001407944.1:c.-15dup NM_001407946.1:c.-62dup NM_001407947.1:c.-62dup NM_001407948.1:c.-62dup NM_001407949.1:c.-62dup NM_001407950.1:c.-62dup NM_001407951.1:c.-62dup NM_001407952.1:c.-62dup NM_001407953.1:c.-62dup NM_001407954.1:c.-62dup NM_001407955.1:c.-62dup NM_001407956.1:c.-62dup NM_001407957.1:c.-62dup NM_001407958.1:c.-62dup NM_001407960.1:c.-177dup NM_001407962.1:c.-177dup NM_001407964.1:c.-15dup NM_001407965.1:c.-293dup NM_001407968.1:c.127dup NP_001394897.1:p.Cys44Leufs frameshift NM_001407969.1:c.127dup NP_001394898.1:p.Cys44Leufs frameshift NM_001407970.1:c.127dup NP_001394899.1:p.Cys44Leufs frameshift NM_001407971.1:c.127dup NP_001394900.1:p.Cys44Leufs frameshift NM_001407972.1:c.127dup NP_001394901.1:p.Cys44Leufs frameshift NM_001407973.1:c.127dup NP_001394902.1:p.Cys44Leufs frameshift NM_001407974.1:c.127dup NP_001394903.1:p.Cys44Leufs frameshift NM_001407975.1:c.127dup NP_001394904.1:p.Cys44Leufs frameshift NM_001407976.1:c.127dup NP_001394905.1:p.Cys44Leufs frameshift NM_001407977.1:c.127dup NP_001394906.1:p.Cys44Leufs frameshift NM_001407978.1:c.127dup NP_001394907.1:p.Cys44Leufs frameshift NM_001407979.1:c.127dup NP_001394908.1:p.Cys44Leufs frameshift NM_001407980.1:c.127dup NP_001394909.1:p.Cys44Leufs frameshift NM_001407981.1:c.127dup NP_001394910.1:p.Cys44Leufs frameshift NM_001407982.1:c.127dup NP_001394911.1:p.Cys44Leufs frameshift NM_001407983.1:c.127dup NP_001394912.1:p.Cys44Leufs frameshift NM_001407984.1:c.127dup NP_001394913.1:p.Cys44Leufs frameshift NM_001407985.1:c.127dup NP_001394914.1:p.Cys44Leufs frameshift NM_001407986.1:c.127dup NP_001394915.1:p.Cys44Leufs frameshift NM_001407990.1:c.127dup NP_001394919.1:p.Cys44Leufs frameshift NM_001407991.1:c.127dup NP_001394920.1:p.Cys44Leufs frameshift NM_001407992.1:c.127dup NP_001394921.1:p.Cys44Leufs frameshift NM_001407993.1:c.127dup NP_001394922.1:p.Cys44Leufs frameshift NM_001408392.1:c.127dup NP_001395321.1:p.Cys44Leufs frameshift NM_001408396.1:c.127dup NP_001395325.1:p.Cys44Leufs frameshift NM_001408397.1:c.127dup NP_001395326.1:p.Cys44Leufs frameshift NM_001408398.1:c.127dup NP_001395327.1:p.Cys44Leufs frameshift NM_001408399.1:c.127dup NP_001395328.1:p.Cys44Leufs frameshift NM_001408400.1:c.127dup NP_001395329.1:p.Cys44Leufs frameshift NM_001408401.1:c.127dup NP_001395330.1:p.Cys44Leufs frameshift NM_001408402.1:c.127dup NP_001395331.1:p.Cys44Leufs frameshift NM_001408403.1:c.127dup NP_001395332.1:p.Cys44Leufs frameshift NM_001408404.1:c.127dup NP_001395333.1:p.Cys44Leufs frameshift NM_001408406.1:c.127dup NP_001395335.1:p.Cys44Leufs frameshift NM_001408407.1:c.127dup NP_001395336.1:p.Cys44Leufs frameshift NM_001408408.1:c.127dup NP_001395337.1:p.Cys44Leufs frameshift NM_001408409.1:c.127dup NP_001395338.1:p.Cys44Leufs frameshift NM_001408410.1:c.-15dup NM_001408411.1:c.127dup NP_001395340.1:p.Cys44Leufs frameshift NM_001408412.1:c.127dup NP_001395341.1:p.Cys44Leufs frameshift NM_001408413.1:c.127dup NP_001395342.1:p.Cys44Leufs frameshift NM_001408414.1:c.127dup NP_001395343.1:p.Cys44Leufs frameshift NM_001408415.1:c.127dup NP_001395344.1:p.Cys44Leufs frameshift NM_001408416.1:c.127dup NP_001395345.1:p.Cys44Leufs frameshift NM_001408418.1:c.127dup NP_001395347.1:p.Cys44Leufs frameshift NM_001408419.1:c.127dup NP_001395348.1:p.Cys44Leufs frameshift NM_001408420.1:c.127dup NP_001395349.1:p.Cys44Leufs frameshift NM_001408421.1:c.127dup NP_001395350.1:p.Cys44Leufs frameshift NM_001408422.1:c.127dup NP_001395351.1:p.Cys44Leufs frameshift NM_001408423.1:c.127dup NP_001395352.1:p.Cys44Leufs frameshift NM_001408424.1:c.127dup NP_001395353.1:p.Cys44Leufs frameshift NM_001408425.1:c.127dup NP_001395354.1:p.Cys44Leufs frameshift NM_001408426.1:c.127dup NP_001395355.1:p.Cys44Leufs frameshift NM_001408427.1:c.127dup NP_001395356.1:p.Cys44Leufs frameshift NM_001408428.1:c.127dup NP_001395357.1:p.Cys44Leufs frameshift NM_001408429.1:c.127dup NP_001395358.1:p.Cys44Leufs frameshift NM_001408430.1:c.127dup NP_001395359.1:p.Cys44Leufs frameshift NM_001408431.1:c.127dup NP_001395360.1:p.Cys44Leufs frameshift NM_001408432.1:c.127dup NP_001395361.1:p.Cys44Leufs frameshift NM_001408433.1:c.127dup NP_001395362.1:p.Cys44Leufs frameshift NM_001408434.1:c.127dup NP_001395363.1:p.Cys44Leufs frameshift NM_001408435.1:c.127dup NP_001395364.1:p.Cys44Leufs frameshift NM_001408436.1:c.127dup NP_001395365.1:p.Cys44Leufs frameshift NM_001408437.1:c.127dup NP_001395366.1:p.Cys44Leufs frameshift NM_001408438.1:c.127dup NP_001395367.1:p.Cys44Leufs frameshift NM_001408439.1:c.127dup NP_001395368.1:p.Cys44Leufs frameshift NM_001408440.1:c.127dup NP_001395369.1:p.Cys44Leufs frameshift NM_001408441.1:c.127dup NP_001395370.1:p.Cys44Leufs frameshift NM_001408442.1:c.127dup NP_001395371.1:p.Cys44Leufs frameshift NM_001408443.1:c.127dup NP_001395372.1:p.Cys44Leufs frameshift NM_001408444.1:c.127dup NP_001395373.1:p.Cys44Leufs frameshift NM_001408445.1:c.127dup NP_001395374.1:p.Cys44Leufs frameshift NM_001408446.1:c.127dup NP_001395375.1:p.Cys44Leufs frameshift NM_001408447.1:c.127dup NP_001395376.1:p.Cys44Leufs frameshift NM_001408448.1:c.127dup NP_001395377.1:p.Cys44Leufs frameshift NM_001408450.1:c.127dup NP_001395379.1:p.Cys44Leufs frameshift NM_001408452.1:c.-15dup NM_001408453.1:c.-15dup NM_001408455.1:c.-131dup NM_001408456.1:c.-131dup NM_001408458.1:c.-15dup NM_001408462.1:c.-15dup NM_001408463.1:c.-15dup NM_001408465.1:c.-135dup NM_001408466.1:c.-15dup NM_001408468.1:c.-131dup NM_001408469.1:c.-15dup NM_001408470.1:c.-15dup NM_001408472.1:c.127dup NP_001395401.1:p.Cys44Leufs frameshift NM_001408473.1:c.127dup NP_001395402.1:p.Cys44Leufs frameshift NM_001408474.1:c.127dup NP_001395403.1:p.Cys44Leufs frameshift NM_001408475.1:c.127dup NP_001395404.1:p.Cys44Leufs frameshift NM_001408476.1:c.127dup NP_001395405.1:p.Cys44Leufs frameshift NM_001408478.1:c.-62dup NM_001408479.1:c.-62dup NM_001408480.1:c.-62dup NM_001408481.1:c.-62dup NM_001408482.1:c.-62dup NM_001408483.1:c.-62dup NM_001408484.1:c.-62dup NM_001408485.1:c.-62dup NM_001408489.1:c.-62dup NM_001408490.1:c.-62dup NM_001408491.1:c.-62dup NM_001408492.1:c.-178dup NM_001408493.1:c.-62dup NM_001408494.1:c.127dup NP_001395423.1:p.Cys44Leufs frameshift NM_001408495.1:c.127dup NP_001395424.1:p.Cys44Leufs frameshift NM_001408497.1:c.-15dup NM_001408499.1:c.-15dup NM_001408500.1:c.-15dup NM_001408501.1:c.-131dup NM_001408502.1:c.-62dup NM_001408503.1:c.-15dup NM_001408504.1:c.-15dup NM_001408505.1:c.-15dup NM_001408506.1:c.-62dup NM_001408507.1:c.-62dup NM_001408508.1:c.-62dup NM_001408509.1:c.-62dup NM_001408510.1:c.-177dup NM_001408512.1:c.-177dup NM_001408513.1:c.-62dup NM_001408514.1:c.-62dup NM_007294.3:c.130dupT frameshift NM_007297.4:c.-8+8287dup intron variant NM_007298.4:c.127dup NP_009229.2:p.Cys44Leufs frameshift NM_007299.4:c.130dup NP_009230.2:p.Cys44fs frameshift NM_007300.4:c.130dup NP_009231.2:p.Cys44fs frameshift NM_007304.2:c.127dup NP_009235.2:p.Cys44Leufs frameshift NR_027676.2:n.332dup non-coding transcript variant NC_000017.11:g.43115733dup NC_000017.10:g.41267750dup NG_005905.2:g.102254dup LRG_292:g.102254dup LRG_292t1:c.127dup LRG_292p1:p.Cys44Leufs - Protein change
- C44fs
- Other names
- 249insT
- Canonical SPDI
- NC_000017.11:43115729:AAAA:AAAAA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13021 | 14825 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000083019.5 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299409.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Aug 02, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000115093.2
First in ClinVar: Feb 09, 2014 Last updated: Sep 27, 2014 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80357951 ...
HelpRecord last updated Mar 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.