ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.51del (p.Met18fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.51del (p.Met18fs)
Variation ID: 254366 Accession: VCV000254366.4
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43124046 (GRCh38) [ NCBI UCSC ] 17: 41276063 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 25, 2016 Dec 11, 2022 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.51del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met18fs frameshift NM_001407571.1:c.-138delT NM_001407581.1:c.51delT NP_001394510.1:p.Met18Cysfs frameshift NM_001407582.1:c.51delT NP_001394511.1:p.Met18Cysfs frameshift NM_001407583.1:c.51delT NP_001394512.1:p.Met18Cysfs frameshift NM_001407585.1:c.51delT NP_001394514.1:p.Met18Cysfs frameshift NM_001407587.1:c.51delT NP_001394516.1:p.Met18Cysfs frameshift NM_001407590.1:c.51delT NP_001394519.1:p.Met18Cysfs frameshift NM_001407591.1:c.51delT NP_001394520.1:p.Met18Cysfs frameshift NM_001407593.1:c.51delT NP_001394522.1:p.Met18Cysfs frameshift NM_001407594.1:c.51delT NP_001394523.1:p.Met18Cysfs frameshift NM_001407596.1:c.51delT NP_001394525.1:p.Met18Cysfs frameshift NM_001407597.1:c.51delT NP_001394526.1:p.Met18Cysfs frameshift NM_001407598.1:c.51delT NP_001394527.1:p.Met18Cysfs frameshift NM_001407602.1:c.51delT NP_001394531.1:p.Met18Cysfs frameshift NM_001407603.1:c.51delT NP_001394532.1:p.Met18Cysfs frameshift NM_001407605.1:c.51delT NP_001394534.1:p.Met18Cysfs frameshift NM_001407610.1:c.51delT NP_001394539.1:p.Met18Cysfs frameshift NM_001407611.1:c.51delT NP_001394540.1:p.Met18Cysfs frameshift NM_001407612.1:c.51delT NP_001394541.1:p.Met18Cysfs frameshift NM_001407613.1:c.51delT NP_001394542.1:p.Met18Cysfs frameshift NM_001407614.1:c.51delT NP_001394543.1:p.Met18Cysfs frameshift NM_001407615.1:c.51delT NP_001394544.1:p.Met18Cysfs frameshift NM_001407616.1:c.51delT NP_001394545.1:p.Met18Cysfs frameshift NM_001407617.1:c.51delT NP_001394546.1:p.Met18Cysfs frameshift NM_001407618.1:c.51delT NP_001394547.1:p.Met18Cysfs frameshift NM_001407619.1:c.51delT NP_001394548.1:p.Met18Cysfs frameshift NM_001407620.1:c.51delT NP_001394549.1:p.Met18Cysfs frameshift NM_001407621.1:c.51delT NP_001394550.1:p.Met18Cysfs frameshift NM_001407622.1:c.51delT NP_001394551.1:p.Met18Cysfs frameshift NM_001407623.1:c.51delT NP_001394552.1:p.Met18Cysfs frameshift NM_001407624.1:c.51delT NP_001394553.1:p.Met18Cysfs frameshift NM_001407625.1:c.51delT NP_001394554.1:p.Met18Cysfs frameshift NM_001407626.1:c.51delT NP_001394555.1:p.Met18Cysfs frameshift NM_001407627.1:c.51delT NP_001394556.1:p.Met18Cysfs frameshift NM_001407628.1:c.51delT NP_001394557.1:p.Met18Cysfs frameshift NM_001407629.1:c.51delT NP_001394558.1:p.Met18Cysfs frameshift NM_001407630.1:c.51delT NP_001394559.1:p.Met18Cysfs frameshift NM_001407631.1:c.51delT NP_001394560.1:p.Met18Cysfs frameshift NM_001407632.1:c.51delT NP_001394561.1:p.Met18Cysfs frameshift NM_001407633.1:c.51delT NP_001394562.1:p.Met18Cysfs frameshift NM_001407634.1:c.51delT NP_001394563.1:p.Met18Cysfs frameshift NM_001407635.1:c.51delT NP_001394564.1:p.Met18Cysfs frameshift NM_001407636.1:c.51delT NP_001394565.1:p.Met18Cysfs frameshift NM_001407637.1:c.51delT NP_001394566.1:p.Met18Cysfs frameshift NM_001407638.1:c.51delT NP_001394567.1:p.Met18Cysfs frameshift NM_001407639.1:c.51delT NP_001394568.1:p.Met18Cysfs frameshift NM_001407640.1:c.51delT NP_001394569.1:p.Met18Cysfs frameshift NM_001407641.1:c.51delT NP_001394570.1:p.Met18Cysfs frameshift NM_001407642.1:c.51delT NP_001394571.1:p.Met18Cysfs frameshift NM_001407644.1:c.51delT NP_001394573.1:p.Met18Cysfs frameshift NM_001407645.1:c.51delT NP_001394574.1:p.Met18Cysfs frameshift NM_001407646.1:c.51delT NP_001394575.1:p.Met18Cysfs frameshift NM_001407647.1:c.51delT NP_001394576.1:p.Met18Cysfs frameshift NM_001407648.1:c.51delT NP_001394577.1:p.Met18Cysfs frameshift NM_001407649.1:c.51delT NP_001394578.1:p.Met18Cysfs frameshift NM_001407652.1:c.51delT NP_001394581.1:p.Met18Cysfs frameshift NM_001407653.1:c.51delT NP_001394582.1:p.Met18Cysfs frameshift NM_001407654.1:c.51delT NP_001394583.1:p.Met18Cysfs frameshift NM_001407655.1:c.51delT NP_001394584.1:p.Met18Cysfs frameshift NM_001407656.1:c.51delT NP_001394585.1:p.Met18Cysfs frameshift NM_001407657.1:c.51delT NP_001394586.1:p.Met18Cysfs frameshift NM_001407658.1:c.51delT NP_001394587.1:p.Met18Cysfs frameshift NM_001407659.1:c.51delT NP_001394588.1:p.Met18Cysfs frameshift NM_001407660.1:c.51delT NP_001394589.1:p.Met18Cysfs frameshift NM_001407661.1:c.51delT NP_001394590.1:p.Met18Cysfs frameshift NM_001407662.1:c.51delT NP_001394591.1:p.Met18Cysfs frameshift NM_001407663.1:c.51delT NP_001394592.1:p.Met18Cysfs frameshift NM_001407664.1:c.51delT NP_001394593.1:p.Met18Cysfs frameshift NM_001407665.1:c.51delT NP_001394594.1:p.Met18Cysfs frameshift NM_001407666.1:c.51delT NP_001394595.1:p.Met18Cysfs frameshift NM_001407667.1:c.51delT NP_001394596.1:p.Met18Cysfs frameshift NM_001407668.1:c.51delT NP_001394597.1:p.Met18Cysfs frameshift NM_001407669.1:c.51delT NP_001394598.1:p.Met18Cysfs frameshift NM_001407670.1:c.51delT NP_001394599.1:p.Met18Cysfs frameshift NM_001407671.1:c.51delT NP_001394600.1:p.Met18Cysfs frameshift NM_001407672.1:c.51delT NP_001394601.1:p.Met18Cysfs frameshift NM_001407673.1:c.51delT NP_001394602.1:p.Met18Cysfs frameshift NM_001407674.1:c.51delT NP_001394603.1:p.Met18Cysfs frameshift NM_001407675.1:c.51delT NP_001394604.1:p.Met18Cysfs frameshift NM_001407676.1:c.51delT NP_001394605.1:p.Met18Cysfs frameshift NM_001407677.1:c.51delT NP_001394606.1:p.Met18Cysfs frameshift NM_001407678.1:c.51delT NP_001394607.1:p.Met18Cysfs frameshift NM_001407679.1:c.51delT NP_001394608.1:p.Met18Cysfs frameshift NM_001407680.1:c.51delT NP_001394609.1:p.Met18Cysfs frameshift NM_001407681.1:c.51delT NP_001394610.1:p.Met18Cysfs frameshift NM_001407682.1:c.51delT NP_001394611.1:p.Met18Cysfs frameshift NM_001407683.1:c.51delT NP_001394612.1:p.Met18Cysfs frameshift NM_001407684.1:c.51delT NP_001394613.1:p.Met18Cysfs frameshift NM_001407685.1:c.51delT NP_001394614.1:p.Met18Cysfs frameshift NM_001407686.1:c.51delT NP_001394615.1:p.Met18Cysfs frameshift NM_001407687.1:c.51delT NP_001394616.1:p.Met18Cysfs frameshift NM_001407688.1:c.51delT NP_001394617.1:p.Met18Cysfs frameshift NM_001407689.1:c.51delT NP_001394618.1:p.Met18Cysfs frameshift NM_001407690.1:c.51delT NP_001394619.1:p.Met18Cysfs frameshift NM_001407691.1:c.51delT NP_001394620.1:p.Met18Cysfs frameshift NM_001407694.1:c.-207delT NM_001407695.1:c.-211delT NM_001407696.1:c.-352delT NM_001407697.1:c.-236delT NM_001407698.1:c.-37delT NM_001407724.1:c.-207delT NM_001407725.1:c.-210delT NM_001407726.1:c.-156delT NM_001407727.1:c.-207delT NM_001407730.1:c.-210delT NM_001407731.1:c.-207delT NM_001407732.1:c.-37delT NM_001407733.1:c.-207delT NM_001407734.1:c.-210delT NM_001407736.1:c.-37delT NM_001407738.1:c.-37delT NM_001407739.1:c.-210delT NM_001407740.1:c.-210delT NM_001407741.1:c.-214delT NM_001407742.1:c.-37delT NM_001407744.1:c.-37delT NM_001407748.1:c.-210delT NM_001407749.1:c.-207delT NM_001407750.1:c.-37delT NM_001407751.1:c.-156delT NM_001407752.1:c.-210delT NM_001407838.1:c.-210delT NM_001407841.1:c.-87delT NM_001407842.1:c.-207delT NM_001407843.1:c.-207delT NM_001407845.1:c.-37delT NM_001407846.1:c.-236delT NM_001407847.1:c.-210delT NM_001407849.1:c.-37delT NM_001407850.1:c.-210delT NM_001407852.1:c.-37delT NM_001407853.1:c.-138delT NM_001407854.1:c.51delT NP_001394783.1:p.Met18Cysfs frameshift NM_001407858.1:c.51delT NP_001394787.1:p.Met18Cysfs frameshift NM_001407859.1:c.51delT NP_001394788.1:p.Met18Cysfs frameshift NM_001407860.1:c.51delT NP_001394789.1:p.Met18Cysfs frameshift NM_001407861.1:c.51delT NP_001394790.1:p.Met18Cysfs frameshift NM_001407862.1:c.51delT NP_001394791.1:p.Met18Cysfs frameshift NM_001407863.1:c.51delT NP_001394792.1:p.Met18Cysfs frameshift NM_001407874.1:c.51delT NP_001394803.1:p.Met18Cysfs frameshift NM_001407875.1:c.51delT NP_001394804.1:p.Met18Cysfs frameshift NM_001407879.1:c.-138delT NM_001407881.1:c.-84delT NM_001407882.1:c.-138delT NM_001407884.1:c.-138delT NM_001407886.1:c.-138delT NM_001407887.1:c.-138delT NM_001407889.1:c.-254delT NM_001407894.1:c.-138delT NM_001407895.1:c.-138delT NM_001407897.1:c.-138delT NM_001407898.1:c.-84delT NM_001407899.1:c.-138delT NM_001407902.1:c.-84delT NM_001407904.1:c.-138delT NM_001407906.1:c.-138delT NM_001407907.1:c.-138delT NM_001407908.1:c.-138delT NM_001407909.1:c.-138delT NM_001407910.1:c.-138delT NM_001407915.1:c.-138delT NM_001407916.1:c.-138delT NM_001407917.1:c.-257delT NM_001407918.1:c.-138delT NM_001407919.1:c.51delT NP_001394848.1:p.Met18Cysfs frameshift NM_001407920.1:c.-236delT NM_001407921.1:c.-210delT NM_001407923.1:c.-210delT NM_001407924.1:c.-37delT NM_001407925.1:c.-37delT NM_001407927.1:c.-210delT NM_001407928.1:c.-37delT NM_001407929.1:c.-37delT NM_001407930.1:c.-207delT NM_001407932.1:c.-37delT NM_001407933.1:c.-210delT NM_001407934.1:c.-214delT NM_001407936.1:c.-37delT NM_001407937.1:c.51delT NP_001394866.1:p.Met18Cysfs frameshift NM_001407938.1:c.51delT NP_001394867.1:p.Met18Cysfs frameshift NM_001407939.1:c.51delT NP_001394868.1:p.Met18Cysfs frameshift NM_001407940.1:c.51delT NP_001394869.1:p.Met18Cysfs frameshift NM_001407941.1:c.51delT NP_001394870.1:p.Met18Cysfs frameshift NM_001407942.1:c.-207delT NM_001407943.1:c.-210delT NM_001407944.1:c.-210delT NM_001407945.1:c.-37delT NM_001407946.1:c.-138delT NM_001407947.1:c.-138delT NM_001407948.1:c.-138delT NM_001407949.1:c.-138delT NM_001407950.1:c.-138delT NM_001407951.1:c.-138delT NM_001407952.1:c.-138delT NM_001407953.1:c.-138delT NM_001407954.1:c.-257delT NM_001407955.1:c.-138delT NM_001407956.1:c.-138delT NM_001407957.1:c.-138delT NM_001407958.1:c.-138delT NM_001407965.1:c.-369delT NM_001407968.1:c.51delT NP_001394897.1:p.Met18Cysfs frameshift NM_001407969.1:c.51delT NP_001394898.1:p.Met18Cysfs frameshift NM_001407970.1:c.51delT NP_001394899.1:p.Met18Cysfs frameshift NM_001407971.1:c.51delT NP_001394900.1:p.Met18Cysfs frameshift NM_001407972.1:c.51delT NP_001394901.1:p.Met18Cysfs frameshift NM_001407973.1:c.51delT NP_001394902.1:p.Met18Cysfs frameshift NM_001407974.1:c.51delT NP_001394903.1:p.Met18Cysfs frameshift NM_001407975.1:c.51delT NP_001394904.1:p.Met18Cysfs frameshift NM_001407976.1:c.51delT NP_001394905.1:p.Met18Cysfs frameshift NM_001407977.1:c.51delT NP_001394906.1:p.Met18Cysfs frameshift NM_001407978.1:c.51delT NP_001394907.1:p.Met18Cysfs frameshift NM_001407979.1:c.51delT NP_001394908.1:p.Met18Cysfs frameshift NM_001407980.1:c.51delT NP_001394909.1:p.Met18Cysfs frameshift NM_001407981.1:c.51delT NP_001394910.1:p.Met18Cysfs frameshift NM_001407982.1:c.51delT NP_001394911.1:p.Met18Cysfs frameshift NM_001407983.1:c.51delT NP_001394912.1:p.Met18Cysfs frameshift NM_001407984.1:c.51delT NP_001394913.1:p.Met18Cysfs frameshift NM_001407985.1:c.51delT NP_001394914.1:p.Met18Cysfs frameshift NM_001407986.1:c.51delT NP_001394915.1:p.Met18Cysfs frameshift NM_001407990.1:c.51delT NP_001394919.1:p.Met18Cysfs frameshift NM_001407991.1:c.51delT NP_001394920.1:p.Met18Cysfs frameshift NM_001407992.1:c.51delT NP_001394921.1:p.Met18Cysfs frameshift NM_001407993.1:c.51delT NP_001394922.1:p.Met18Cysfs frameshift NM_001408392.1:c.51delT NP_001395321.1:p.Met18Cysfs frameshift NM_001408396.1:c.51delT NP_001395325.1:p.Met18Cysfs frameshift NM_001408397.1:c.51delT NP_001395326.1:p.Met18Cysfs frameshift NM_001408398.1:c.51delT NP_001395327.1:p.Met18Cysfs frameshift NM_001408399.1:c.51delT NP_001395328.1:p.Met18Cysfs frameshift NM_001408400.1:c.51delT NP_001395329.1:p.Met18Cysfs frameshift NM_001408401.1:c.51delT NP_001395330.1:p.Met18Cysfs frameshift NM_001408402.1:c.51delT NP_001395331.1:p.Met18Cysfs frameshift NM_001408403.1:c.51delT NP_001395332.1:p.Met18Cysfs frameshift NM_001408404.1:c.51delT NP_001395333.1:p.Met18Cysfs frameshift NM_001408406.1:c.51delT NP_001395335.1:p.Met18Cysfs frameshift NM_001408407.1:c.51delT NP_001395336.1:p.Met18Cysfs frameshift NM_001408408.1:c.51delT NP_001395337.1:p.Met18Cysfs frameshift NM_001408409.1:c.51delT NP_001395338.1:p.Met18Cysfs frameshift NM_001408410.1:c.-210delT NM_001408411.1:c.51delT NP_001395340.1:p.Met18Cysfs frameshift NM_001408412.1:c.51delT NP_001395341.1:p.Met18Cysfs frameshift NM_001408413.1:c.51delT NP_001395342.1:p.Met18Cysfs frameshift NM_001408414.1:c.51delT NP_001395343.1:p.Met18Cysfs frameshift NM_001408415.1:c.51delT NP_001395344.1:p.Met18Cysfs frameshift NM_001408416.1:c.51delT NP_001395345.1:p.Met18Cysfs frameshift NM_001408418.1:c.51delT NP_001395347.1:p.Met18Cysfs frameshift NM_001408419.1:c.51delT NP_001395348.1:p.Met18Cysfs frameshift NM_001408420.1:c.51delT NP_001395349.1:p.Met18Cysfs frameshift NM_001408421.1:c.51delT NP_001395350.1:p.Met18Cysfs frameshift NM_001408422.1:c.51delT NP_001395351.1:p.Met18Cysfs frameshift NM_001408423.1:c.51delT NP_001395352.1:p.Met18Cysfs frameshift NM_001408424.1:c.51delT NP_001395353.1:p.Met18Cysfs frameshift NM_001408425.1:c.51delT NP_001395354.1:p.Met18Cysfs frameshift NM_001408426.1:c.51delT NP_001395355.1:p.Met18Cysfs frameshift NM_001408427.1:c.51delT NP_001395356.1:p.Met18Cysfs frameshift NM_001408428.1:c.51delT NP_001395357.1:p.Met18Cysfs frameshift NM_001408429.1:c.51delT NP_001395358.1:p.Met18Cysfs frameshift NM_001408430.1:c.51delT NP_001395359.1:p.Met18Cysfs frameshift NM_001408431.1:c.51delT NP_001395360.1:p.Met18Cysfs frameshift NM_001408432.1:c.51delT NP_001395361.1:p.Met18Cysfs frameshift NM_001408433.1:c.51delT NP_001395362.1:p.Met18Cysfs frameshift NM_001408434.1:c.51delT NP_001395363.1:p.Met18Cysfs frameshift NM_001408435.1:c.51delT NP_001395364.1:p.Met18Cysfs frameshift NM_001408436.1:c.51delT NP_001395365.1:p.Met18Cysfs frameshift NM_001408437.1:c.51delT NP_001395366.1:p.Met18Cysfs frameshift NM_001408438.1:c.51delT NP_001395367.1:p.Met18Cysfs frameshift NM_001408439.1:c.51delT NP_001395368.1:p.Met18Cysfs frameshift NM_001408440.1:c.51delT NP_001395369.1:p.Met18Cysfs frameshift NM_001408441.1:c.51delT NP_001395370.1:p.Met18Cysfs frameshift NM_001408442.1:c.51delT NP_001395371.1:p.Met18Cysfs frameshift NM_001408443.1:c.51delT NP_001395372.1:p.Met18Cysfs frameshift NM_001408444.1:c.51delT NP_001395373.1:p.Met18Cysfs frameshift NM_001408445.1:c.51delT NP_001395374.1:p.Met18Cysfs frameshift NM_001408446.1:c.51delT NP_001395375.1:p.Met18Cysfs frameshift NM_001408447.1:c.51delT NP_001395376.1:p.Met18Cysfs frameshift NM_001408448.1:c.51delT NP_001395377.1:p.Met18Cysfs frameshift NM_001408450.1:c.51delT NP_001395379.1:p.Met18Cysfs frameshift NM_001408451.1:c.51delT NP_001395380.1:p.Met18Cysfs frameshift NM_001408452.1:c.-210delT NM_001408454.1:c.-37delT NM_001408455.1:c.-207delT NM_001408456.1:c.-207delT NM_001408459.1:c.-37delT NM_001408460.1:c.-37delT NM_001408461.1:c.-37delT NM_001408462.1:c.-210delT NM_001408463.1:c.-210delT NM_001408464.1:c.-37delT NM_001408465.1:c.-211delT NM_001408466.1:c.-210delT NM_001408467.1:c.-37delT NM_001408468.1:c.-207delT NM_001408472.1:c.51delT NP_001395401.1:p.Met18Cysfs frameshift NM_001408473.1:c.51delT NP_001395402.1:p.Met18Cysfs frameshift NM_001408474.1:c.51delT NP_001395403.1:p.Met18Cysfs frameshift NM_001408475.1:c.51delT NP_001395404.1:p.Met18Cysfs frameshift NM_001408476.1:c.51delT NP_001395405.1:p.Met18Cysfs frameshift NM_001408478.1:c.-138delT NM_001408479.1:c.-138delT NM_001408480.1:c.-138delT NM_001408481.1:c.-138delT NM_001408482.1:c.-283delT NM_001408483.1:c.-138delT NM_001408484.1:c.-138delT NM_001408485.1:c.-138delT NM_001408489.1:c.-138delT NM_001408490.1:c.-138delT NM_001408491.1:c.-138delT NM_001408492.1:c.-254delT NM_001408493.1:c.-138delT NM_001408494.1:c.51delT NP_001395423.1:p.Met18Cysfs frameshift NM_001408495.1:c.51delT NP_001395424.1:p.Met18Cysfs frameshift NM_001408496.1:c.-37delT NM_001408497.1:c.-214delT NM_001408498.1:c.-37delT NM_001408499.1:c.-210delT NM_001408500.1:c.-210delT NM_001408501.1:c.-207delT NM_001408502.1:c.-138delT NM_001408503.1:c.-210delT NM_001408504.1:c.-210delT NM_001408506.1:c.-138delT NM_001408507.1:c.-138delT NM_001408508.1:c.-138delT NM_001408509.1:c.-138delT NM_001408513.1:c.-257delT NM_001408514.1:c.-138delT NM_007297.4:c.-37del 5 prime UTR NM_007298.4:c.51delT NP_009229.2:p.Met18Cysfs frameshift NM_007299.4:c.51del NP_009230.2:p.Met18fs frameshift NM_007300.4:c.51del NP_009231.2:p.Met18fs frameshift NM_007304.2:c.51delT NP_009235.2:p.Met18Cysfs frameshift NR_027676.2:n.253del non-coding transcript variant NC_000017.11:g.43124046del NC_000017.10:g.41276063del NG_005905.2:g.93938del LRG_292:g.93938del LRG_292t1:c.51del LRG_292p1:p.Met18Cysfs - Protein change
- M18fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43124045:A:
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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 |
13037 | 14843 |
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 | RCV000241114.5 |
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: SCV000299395.2
First in ClinVar: Sep 25, 2016 Last updated: Sep 25, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326213.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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 rs886037967 ...
HelpRecord last updated Oct 08, 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.