ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.65del (p.Ile21_Leu22insTer)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.65del (p.Ile21_Leu22insTer)
Variation ID: 254367 Accession: VCV000254367.3
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43124032 (GRCh38) [ NCBI UCSC ] 17: 41276049 (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 Apr 1, 2014 Sep 25, 2016 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.65del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile21_Leu22insTer nonsense NM_001407571.1:c.-125delT NM_001407581.1:c.64delT NP_001394510.1:p.Leu22Terfs frameshift nonsense NM_001407582.1:c.64delT NP_001394511.1:p.Leu22Terfs frameshift nonsense NM_001407583.1:c.64delT NP_001394512.1:p.Leu22Terfs frameshift nonsense NM_001407585.1:c.64delT NP_001394514.1:p.Leu22Terfs frameshift nonsense NM_001407587.1:c.64delT NP_001394516.1:p.Leu22Terfs frameshift nonsense NM_001407590.1:c.64delT NP_001394519.1:p.Leu22Terfs frameshift nonsense NM_001407591.1:c.64delT NP_001394520.1:p.Leu22Terfs frameshift nonsense NM_001407593.1:c.64delT NP_001394522.1:p.Leu22Terfs frameshift nonsense NM_001407594.1:c.64delT NP_001394523.1:p.Leu22Terfs frameshift nonsense NM_001407596.1:c.64delT NP_001394525.1:p.Leu22Terfs frameshift nonsense NM_001407597.1:c.64delT NP_001394526.1:p.Leu22Terfs frameshift nonsense NM_001407598.1:c.64delT NP_001394527.1:p.Leu22Terfs frameshift nonsense NM_001407602.1:c.64delT NP_001394531.1:p.Leu22Terfs frameshift nonsense NM_001407603.1:c.64delT NP_001394532.1:p.Leu22Terfs frameshift nonsense NM_001407605.1:c.64delT NP_001394534.1:p.Leu22Terfs frameshift nonsense NM_001407610.1:c.64delT NP_001394539.1:p.Leu22Terfs frameshift nonsense NM_001407611.1:c.64delT NP_001394540.1:p.Leu22Terfs frameshift nonsense NM_001407612.1:c.64delT NP_001394541.1:p.Leu22Terfs frameshift nonsense NM_001407613.1:c.64delT NP_001394542.1:p.Leu22Terfs frameshift nonsense NM_001407614.1:c.64delT NP_001394543.1:p.Leu22Terfs frameshift nonsense NM_001407615.1:c.64delT NP_001394544.1:p.Leu22Terfs frameshift nonsense NM_001407616.1:c.64delT NP_001394545.1:p.Leu22Terfs frameshift nonsense NM_001407617.1:c.64delT NP_001394546.1:p.Leu22Terfs frameshift nonsense NM_001407618.1:c.64delT NP_001394547.1:p.Leu22Terfs frameshift nonsense NM_001407619.1:c.64delT NP_001394548.1:p.Leu22Terfs frameshift nonsense NM_001407620.1:c.64delT NP_001394549.1:p.Leu22Terfs frameshift nonsense NM_001407621.1:c.64delT NP_001394550.1:p.Leu22Terfs frameshift nonsense NM_001407622.1:c.64delT NP_001394551.1:p.Leu22Terfs frameshift nonsense NM_001407623.1:c.64delT NP_001394552.1:p.Leu22Terfs frameshift nonsense NM_001407624.1:c.64delT NP_001394553.1:p.Leu22Terfs frameshift nonsense NM_001407625.1:c.64delT NP_001394554.1:p.Leu22Terfs frameshift nonsense NM_001407626.1:c.64delT NP_001394555.1:p.Leu22Terfs frameshift nonsense NM_001407627.1:c.64delT NP_001394556.1:p.Leu22Terfs frameshift nonsense NM_001407628.1:c.64delT NP_001394557.1:p.Leu22Terfs frameshift nonsense NM_001407629.1:c.64delT NP_001394558.1:p.Leu22Terfs frameshift nonsense NM_001407630.1:c.64delT NP_001394559.1:p.Leu22Terfs frameshift nonsense NM_001407631.1:c.64delT NP_001394560.1:p.Leu22Terfs frameshift nonsense NM_001407632.1:c.64delT NP_001394561.1:p.Leu22Terfs frameshift nonsense NM_001407633.1:c.64delT NP_001394562.1:p.Leu22Terfs frameshift nonsense NM_001407634.1:c.64delT NP_001394563.1:p.Leu22Terfs frameshift nonsense NM_001407635.1:c.64delT NP_001394564.1:p.Leu22Terfs frameshift nonsense NM_001407636.1:c.64delT NP_001394565.1:p.Leu22Terfs frameshift nonsense NM_001407637.1:c.64delT NP_001394566.1:p.Leu22Terfs frameshift nonsense NM_001407638.1:c.64delT NP_001394567.1:p.Leu22Terfs frameshift nonsense NM_001407639.1:c.64delT NP_001394568.1:p.Leu22Terfs frameshift nonsense NM_001407640.1:c.64delT NP_001394569.1:p.Leu22Terfs frameshift nonsense NM_001407641.1:c.64delT NP_001394570.1:p.Leu22Terfs frameshift nonsense NM_001407642.1:c.64delT NP_001394571.1:p.Leu22Terfs frameshift nonsense NM_001407644.1:c.64delT NP_001394573.1:p.Leu22Terfs frameshift nonsense NM_001407645.1:c.64delT NP_001394574.1:p.Leu22Terfs frameshift nonsense NM_001407646.1:c.64delT NP_001394575.1:p.Leu22Terfs frameshift nonsense NM_001407647.1:c.64delT NP_001394576.1:p.Leu22Terfs frameshift nonsense NM_001407648.1:c.64delT NP_001394577.1:p.Leu22Terfs frameshift nonsense NM_001407649.1:c.64delT NP_001394578.1:p.Leu22Terfs frameshift nonsense NM_001407652.1:c.64delT NP_001394581.1:p.Leu22Terfs frameshift nonsense NM_001407653.1:c.64delT NP_001394582.1:p.Leu22Terfs frameshift nonsense NM_001407654.1:c.64delT NP_001394583.1:p.Leu22Terfs frameshift nonsense NM_001407655.1:c.64delT NP_001394584.1:p.Leu22Terfs frameshift nonsense NM_001407656.1:c.64delT NP_001394585.1:p.Leu22Terfs frameshift nonsense NM_001407657.1:c.64delT NP_001394586.1:p.Leu22Terfs frameshift nonsense NM_001407658.1:c.64delT NP_001394587.1:p.Leu22Terfs frameshift nonsense NM_001407659.1:c.64delT NP_001394588.1:p.Leu22Terfs frameshift nonsense NM_001407660.1:c.64delT NP_001394589.1:p.Leu22Terfs frameshift nonsense NM_001407661.1:c.64delT NP_001394590.1:p.Leu22Terfs frameshift nonsense NM_001407662.1:c.64delT NP_001394591.1:p.Leu22Terfs frameshift nonsense NM_001407663.1:c.64delT NP_001394592.1:p.Leu22Terfs frameshift nonsense NM_001407664.1:c.64delT NP_001394593.1:p.Leu22Terfs frameshift nonsense NM_001407665.1:c.64delT NP_001394594.1:p.Leu22Terfs frameshift nonsense NM_001407666.1:c.64delT NP_001394595.1:p.Leu22Terfs frameshift nonsense NM_001407667.1:c.64delT NP_001394596.1:p.Leu22Terfs frameshift nonsense NM_001407668.1:c.64delT NP_001394597.1:p.Leu22Terfs frameshift nonsense NM_001407669.1:c.64delT NP_001394598.1:p.Leu22Terfs frameshift nonsense NM_001407670.1:c.64delT NP_001394599.1:p.Leu22Terfs frameshift nonsense NM_001407671.1:c.64delT NP_001394600.1:p.Leu22Terfs frameshift nonsense NM_001407672.1:c.64delT NP_001394601.1:p.Leu22Terfs frameshift nonsense NM_001407673.1:c.64delT NP_001394602.1:p.Leu22Terfs frameshift nonsense NM_001407674.1:c.64delT NP_001394603.1:p.Leu22Terfs frameshift nonsense NM_001407675.1:c.64delT NP_001394604.1:p.Leu22Terfs frameshift nonsense NM_001407676.1:c.64delT NP_001394605.1:p.Leu22Terfs frameshift nonsense NM_001407677.1:c.64delT NP_001394606.1:p.Leu22Terfs frameshift nonsense NM_001407678.1:c.64delT NP_001394607.1:p.Leu22Terfs frameshift nonsense NM_001407679.1:c.64delT NP_001394608.1:p.Leu22Terfs frameshift nonsense NM_001407680.1:c.64delT NP_001394609.1:p.Leu22Terfs frameshift nonsense NM_001407681.1:c.64delT NP_001394610.1:p.Leu22Terfs frameshift nonsense NM_001407682.1:c.64delT NP_001394611.1:p.Leu22Terfs frameshift nonsense NM_001407683.1:c.64delT NP_001394612.1:p.Leu22Terfs frameshift nonsense NM_001407684.1:c.64delT NP_001394613.1:p.Leu22Terfs frameshift nonsense NM_001407685.1:c.64delT NP_001394614.1:p.Leu22Terfs frameshift nonsense NM_001407686.1:c.64delT NP_001394615.1:p.Leu22Terfs frameshift nonsense NM_001407687.1:c.64delT NP_001394616.1:p.Leu22Terfs frameshift nonsense NM_001407688.1:c.64delT NP_001394617.1:p.Leu22Terfs frameshift nonsense NM_001407689.1:c.64delT NP_001394618.1:p.Leu22Terfs frameshift nonsense NM_001407690.1:c.64delT NP_001394619.1:p.Leu22Terfs frameshift nonsense NM_001407691.1:c.64delT NP_001394620.1:p.Leu22Terfs frameshift nonsense NM_001407694.1:c.-194delT NM_001407695.1:c.-198delT NM_001407696.1:c.-339delT NM_001407697.1:c.-223delT NM_001407698.1:c.-24delT NM_001407724.1:c.-194delT NM_001407725.1:c.-197delT NM_001407726.1:c.-143delT NM_001407727.1:c.-194delT NM_001407730.1:c.-197delT NM_001407731.1:c.-194delT NM_001407732.1:c.-24delT NM_001407733.1:c.-194delT NM_001407734.1:c.-197delT NM_001407736.1:c.-24delT NM_001407738.1:c.-24delT NM_001407739.1:c.-197delT NM_001407740.1:c.-197delT NM_001407741.1:c.-201delT NM_001407742.1:c.-24delT NM_001407744.1:c.-24delT NM_001407748.1:c.-197delT NM_001407749.1:c.-194delT NM_001407750.1:c.-24delT NM_001407751.1:c.-143delT NM_001407752.1:c.-197delT NM_001407838.1:c.-197delT NM_001407841.1:c.-74delT NM_001407842.1:c.-194delT NM_001407843.1:c.-194delT NM_001407845.1:c.-24delT NM_001407846.1:c.-223delT NM_001407847.1:c.-197delT NM_001407849.1:c.-24delT NM_001407850.1:c.-197delT NM_001407852.1:c.-24delT NM_001407853.1:c.-125delT NM_001407854.1:c.64delT NP_001394783.1:p.Leu22Terfs frameshift nonsense NM_001407858.1:c.64delT NP_001394787.1:p.Leu22Terfs frameshift nonsense NM_001407859.1:c.64delT NP_001394788.1:p.Leu22Terfs frameshift nonsense NM_001407860.1:c.64delT NP_001394789.1:p.Leu22Terfs frameshift nonsense NM_001407861.1:c.64delT NP_001394790.1:p.Leu22Terfs frameshift nonsense NM_001407862.1:c.64delT NP_001394791.1:p.Leu22Terfs frameshift nonsense NM_001407863.1:c.64delT NP_001394792.1:p.Leu22Terfs frameshift nonsense NM_001407874.1:c.64delT NP_001394803.1:p.Leu22Terfs frameshift nonsense NM_001407875.1:c.64delT NP_001394804.1:p.Leu22Terfs frameshift nonsense NM_001407879.1:c.-125delT NM_001407881.1:c.-71delT NM_001407882.1:c.-125delT NM_001407884.1:c.-125delT NM_001407886.1:c.-125delT NM_001407887.1:c.-125delT NM_001407889.1:c.-241delT NM_001407894.1:c.-125delT NM_001407895.1:c.-125delT NM_001407897.1:c.-125delT NM_001407898.1:c.-71delT NM_001407899.1:c.-125delT NM_001407902.1:c.-71delT NM_001407904.1:c.-125delT NM_001407906.1:c.-125delT NM_001407907.1:c.-125delT NM_001407908.1:c.-125delT NM_001407909.1:c.-125delT NM_001407910.1:c.-125delT NM_001407915.1:c.-125delT NM_001407916.1:c.-125delT NM_001407917.1:c.-244delT NM_001407918.1:c.-125delT NM_001407919.1:c.64delT NP_001394848.1:p.Leu22Terfs frameshift nonsense NM_001407920.1:c.-223delT NM_001407921.1:c.-197delT NM_001407923.1:c.-197delT NM_001407924.1:c.-24delT NM_001407925.1:c.-24delT NM_001407927.1:c.-197delT NM_001407928.1:c.-24delT NM_001407929.1:c.-24delT NM_001407930.1:c.-194delT NM_001407932.1:c.-24delT NM_001407933.1:c.-197delT NM_001407934.1:c.-201delT NM_001407936.1:c.-24delT NM_001407937.1:c.64delT NP_001394866.1:p.Leu22Terfs frameshift nonsense NM_001407938.1:c.64delT NP_001394867.1:p.Leu22Terfs frameshift nonsense NM_001407939.1:c.64delT NP_001394868.1:p.Leu22Terfs frameshift nonsense NM_001407940.1:c.64delT NP_001394869.1:p.Leu22Terfs frameshift nonsense NM_001407941.1:c.64delT NP_001394870.1:p.Leu22Terfs frameshift nonsense NM_001407942.1:c.-194delT NM_001407943.1:c.-197delT NM_001407944.1:c.-197delT NM_001407945.1:c.-24delT NM_001407946.1:c.-125delT NM_001407947.1:c.-125delT NM_001407948.1:c.-125delT NM_001407949.1:c.-125delT NM_001407950.1:c.-125delT NM_001407951.1:c.-125delT NM_001407952.1:c.-125delT NM_001407953.1:c.-125delT NM_001407954.1:c.-244delT NM_001407955.1:c.-125delT NM_001407956.1:c.-125delT NM_001407957.1:c.-125delT NM_001407958.1:c.-125delT NM_001407965.1:c.-356delT NM_001407968.1:c.64delT NP_001394897.1:p.Leu22Terfs frameshift nonsense NM_001407969.1:c.64delT NP_001394898.1:p.Leu22Terfs frameshift nonsense NM_001407970.1:c.64delT NP_001394899.1:p.Leu22Terfs frameshift nonsense NM_001407971.1:c.64delT NP_001394900.1:p.Leu22Terfs frameshift nonsense NM_001407972.1:c.64delT NP_001394901.1:p.Leu22Terfs frameshift nonsense NM_001407973.1:c.64delT NP_001394902.1:p.Leu22Terfs frameshift nonsense NM_001407974.1:c.64delT NP_001394903.1:p.Leu22Terfs frameshift nonsense NM_001407975.1:c.64delT NP_001394904.1:p.Leu22Terfs frameshift nonsense NM_001407976.1:c.64delT NP_001394905.1:p.Leu22Terfs frameshift nonsense NM_001407977.1:c.64delT NP_001394906.1:p.Leu22Terfs frameshift nonsense NM_001407978.1:c.64delT NP_001394907.1:p.Leu22Terfs frameshift nonsense NM_001407979.1:c.64delT NP_001394908.1:p.Leu22Terfs frameshift nonsense NM_001407980.1:c.64delT NP_001394909.1:p.Leu22Terfs frameshift nonsense NM_001407981.1:c.64delT NP_001394910.1:p.Leu22Terfs frameshift nonsense NM_001407982.1:c.64delT NP_001394911.1:p.Leu22Terfs frameshift nonsense NM_001407983.1:c.64delT NP_001394912.1:p.Leu22Terfs frameshift nonsense NM_001407984.1:c.64delT NP_001394913.1:p.Leu22Terfs frameshift nonsense NM_001407985.1:c.64delT NP_001394914.1:p.Leu22Terfs frameshift nonsense NM_001407986.1:c.64delT NP_001394915.1:p.Leu22Terfs frameshift nonsense NM_001407990.1:c.64delT NP_001394919.1:p.Leu22Terfs frameshift nonsense NM_001407991.1:c.64delT NP_001394920.1:p.Leu22Terfs frameshift nonsense NM_001407992.1:c.64delT NP_001394921.1:p.Leu22Terfs frameshift nonsense NM_001407993.1:c.64delT NP_001394922.1:p.Leu22Terfs frameshift nonsense NM_001408392.1:c.64delT NP_001395321.1:p.Leu22Terfs frameshift nonsense NM_001408396.1:c.64delT NP_001395325.1:p.Leu22Terfs frameshift nonsense NM_001408397.1:c.64delT NP_001395326.1:p.Leu22Terfs frameshift nonsense NM_001408398.1:c.64delT NP_001395327.1:p.Leu22Terfs frameshift nonsense NM_001408399.1:c.64delT NP_001395328.1:p.Leu22Terfs frameshift nonsense NM_001408400.1:c.64delT NP_001395329.1:p.Leu22Terfs frameshift nonsense NM_001408401.1:c.64delT NP_001395330.1:p.Leu22Terfs frameshift nonsense NM_001408402.1:c.64delT NP_001395331.1:p.Leu22Terfs frameshift nonsense NM_001408403.1:c.64delT NP_001395332.1:p.Leu22Terfs frameshift nonsense NM_001408404.1:c.64delT NP_001395333.1:p.Leu22Terfs frameshift nonsense NM_001408406.1:c.64delT NP_001395335.1:p.Leu22Terfs frameshift nonsense NM_001408407.1:c.64delT NP_001395336.1:p.Leu22Terfs frameshift nonsense NM_001408408.1:c.64delT NP_001395337.1:p.Leu22Terfs frameshift nonsense NM_001408409.1:c.64delT NP_001395338.1:p.Leu22Terfs frameshift nonsense NM_001408410.1:c.-197delT NM_001408411.1:c.64delT NP_001395340.1:p.Leu22Terfs frameshift nonsense NM_001408412.1:c.64delT NP_001395341.1:p.Leu22Terfs frameshift nonsense NM_001408413.1:c.64delT NP_001395342.1:p.Leu22Terfs frameshift nonsense NM_001408414.1:c.64delT NP_001395343.1:p.Leu22Terfs frameshift nonsense NM_001408415.1:c.64delT NP_001395344.1:p.Leu22Terfs frameshift nonsense NM_001408416.1:c.64delT NP_001395345.1:p.Leu22Terfs frameshift nonsense NM_001408418.1:c.64delT NP_001395347.1:p.Leu22Terfs frameshift nonsense NM_001408419.1:c.64delT NP_001395348.1:p.Leu22Terfs frameshift nonsense NM_001408420.1:c.64delT NP_001395349.1:p.Leu22Terfs frameshift nonsense NM_001408421.1:c.64delT NP_001395350.1:p.Leu22Terfs frameshift nonsense NM_001408422.1:c.64delT NP_001395351.1:p.Leu22Terfs frameshift nonsense NM_001408423.1:c.64delT NP_001395352.1:p.Leu22Terfs frameshift nonsense NM_001408424.1:c.64delT NP_001395353.1:p.Leu22Terfs frameshift nonsense NM_001408425.1:c.64delT NP_001395354.1:p.Leu22Terfs frameshift nonsense NM_001408426.1:c.64delT NP_001395355.1:p.Leu22Terfs frameshift nonsense NM_001408427.1:c.64delT NP_001395356.1:p.Leu22Terfs frameshift nonsense NM_001408428.1:c.64delT NP_001395357.1:p.Leu22Terfs frameshift nonsense NM_001408429.1:c.64delT NP_001395358.1:p.Leu22Terfs frameshift nonsense NM_001408430.1:c.64delT NP_001395359.1:p.Leu22Terfs frameshift nonsense NM_001408431.1:c.64delT NP_001395360.1:p.Leu22Terfs frameshift nonsense NM_001408432.1:c.64delT NP_001395361.1:p.Leu22Terfs frameshift nonsense NM_001408433.1:c.64delT NP_001395362.1:p.Leu22Terfs frameshift nonsense NM_001408434.1:c.64delT NP_001395363.1:p.Leu22Terfs frameshift nonsense NM_001408435.1:c.64delT NP_001395364.1:p.Leu22Terfs frameshift nonsense NM_001408436.1:c.64delT NP_001395365.1:p.Leu22Terfs frameshift nonsense NM_001408437.1:c.64delT NP_001395366.1:p.Leu22Terfs frameshift nonsense NM_001408438.1:c.64delT NP_001395367.1:p.Leu22Terfs frameshift nonsense NM_001408439.1:c.64delT NP_001395368.1:p.Leu22Terfs frameshift nonsense NM_001408440.1:c.64delT NP_001395369.1:p.Leu22Terfs frameshift nonsense NM_001408441.1:c.64delT NP_001395370.1:p.Leu22Terfs frameshift nonsense NM_001408442.1:c.64delT NP_001395371.1:p.Leu22Terfs frameshift nonsense NM_001408443.1:c.64delT NP_001395372.1:p.Leu22Terfs frameshift nonsense NM_001408444.1:c.64delT NP_001395373.1:p.Leu22Terfs frameshift nonsense NM_001408445.1:c.64delT NP_001395374.1:p.Leu22Terfs frameshift nonsense NM_001408446.1:c.64delT NP_001395375.1:p.Leu22Terfs frameshift nonsense NM_001408447.1:c.64delT NP_001395376.1:p.Leu22Terfs frameshift nonsense NM_001408448.1:c.64delT NP_001395377.1:p.Leu22Terfs frameshift nonsense NM_001408450.1:c.64delT NP_001395379.1:p.Leu22Terfs frameshift nonsense NM_001408451.1:c.64delT NP_001395380.1:p.Leu22Terfs frameshift nonsense NM_001408452.1:c.-197delT NM_001408454.1:c.-24delT NM_001408455.1:c.-194delT NM_001408456.1:c.-194delT NM_001408459.1:c.-24delT NM_001408460.1:c.-24delT NM_001408461.1:c.-24delT NM_001408462.1:c.-197delT NM_001408463.1:c.-197delT NM_001408464.1:c.-24delT NM_001408465.1:c.-198delT NM_001408466.1:c.-197delT NM_001408467.1:c.-24delT NM_001408468.1:c.-194delT NM_001408472.1:c.64delT NP_001395401.1:p.Leu22Terfs frameshift nonsense NM_001408473.1:c.64delT NP_001395402.1:p.Leu22Terfs frameshift nonsense NM_001408474.1:c.64delT NP_001395403.1:p.Leu22Terfs frameshift nonsense NM_001408475.1:c.64delT NP_001395404.1:p.Leu22Terfs frameshift nonsense NM_001408476.1:c.64delT NP_001395405.1:p.Leu22Terfs frameshift nonsense NM_001408478.1:c.-125delT NM_001408479.1:c.-125delT NM_001408480.1:c.-125delT NM_001408481.1:c.-125delT NM_001408482.1:c.-270delT NM_001408483.1:c.-125delT NM_001408484.1:c.-125delT NM_001408485.1:c.-125delT NM_001408489.1:c.-125delT NM_001408490.1:c.-125delT NM_001408491.1:c.-125delT NM_001408492.1:c.-241delT NM_001408493.1:c.-125delT NM_001408494.1:c.64delT NP_001395423.1:p.Leu22Terfs frameshift nonsense NM_001408495.1:c.64delT NP_001395424.1:p.Leu22Terfs frameshift nonsense NM_001408496.1:c.-24delT NM_001408497.1:c.-201delT NM_001408498.1:c.-24delT NM_001408499.1:c.-197delT NM_001408500.1:c.-197delT NM_001408501.1:c.-194delT NM_001408502.1:c.-125delT NM_001408503.1:c.-197delT NM_001408504.1:c.-197delT NM_001408506.1:c.-125delT NM_001408507.1:c.-125delT NM_001408508.1:c.-125delT NM_001408509.1:c.-125delT NM_001408513.1:c.-244delT NM_001408514.1:c.-125delT NM_007294.3:c.65delT frameshift nonsense NM_007297.4:c.-23del 5 prime UTR NM_007298.4:c.64delT NP_009229.2:p.Leu22Terfs frameshift nonsense NM_007299.4:c.65del NP_009230.2:p.Ile21_Leu22insTer nonsense NM_007300.4:c.65del NP_009231.2:p.Ile21_Leu22insTer nonsense NM_007304.2:c.64delT NP_009235.2:p.Leu22Terfs frameshift nonsense NR_027676.2:n.267del non-coding transcript variant NC_000017.11:g.43124033del NC_000017.10:g.41276050del NG_005905.2:g.93952del LRG_292:g.93952del LRG_292t1:c.64del LRG_292p1:p.Leu22Terfs U14680.1:n.183delT - Protein change
- Other names
- 183delT
- Canonical SPDI
- NC_000017.11:43124031:AA: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 | RCV000241026.4 |
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)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299397.2
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
(Jun 22, 1998)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144164.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Hispanic
Geographic origin: American
|
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 rs80357642 ...
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.