ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2376del (p.Lys793fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2376del (p.Lys793fs)
Variation ID: 125560 Accession: VCV000125560.3
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093155 (GRCh38) [ NCBI UCSC ] 17: 41245172 (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 4, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2376del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys793fs frameshift NM_001407571.1:c.2163del NP_001394500.1:p.Lys722fs frameshift NM_001407581.1:c.2376del NP_001394510.1:p.Lys793fs frameshift NM_001407582.1:c.2376del NP_001394511.1:p.Lys793fs frameshift NM_001407583.1:c.2376del NP_001394512.1:p.Lys793fs frameshift NM_001407585.1:c.2376del NP_001394514.1:p.Lys793fs frameshift NM_001407587.1:c.2373del NP_001394516.1:p.Lys792fs frameshift NM_001407590.1:c.2373del NP_001394519.1:p.Lys792fs frameshift NM_001407591.1:c.2373del NP_001394520.1:p.Lys792fs frameshift NM_001407593.1:c.2376del NP_001394522.1:p.Lys793fs frameshift NM_001407594.1:c.2376del NP_001394523.1:p.Lys793fs frameshift NM_001407596.1:c.2376del NP_001394525.1:p.Lys793fs frameshift NM_001407597.1:c.2376del NP_001394526.1:p.Lys793fs frameshift NM_001407598.1:c.2376del NP_001394527.1:p.Lys793fs frameshift NM_001407602.1:c.2376del NP_001394531.1:p.Lys793fs frameshift NM_001407603.1:c.2376del NP_001394532.1:p.Lys793fs frameshift NM_001407605.1:c.2376del NP_001394534.1:p.Lys793fs frameshift NM_001407610.1:c.2373del NP_001394539.1:p.Lys792fs frameshift NM_001407611.1:c.2373del NP_001394540.1:p.Lys792fs frameshift NM_001407612.1:c.2373del NP_001394541.1:p.Lys792fs frameshift NM_001407613.1:c.2373del NP_001394542.1:p.Lys792fs frameshift NM_001407614.1:c.2373del NP_001394543.1:p.Lys792fs frameshift NM_001407615.1:c.2373del NP_001394544.1:p.Lys792fs frameshift NM_001407616.1:c.2376del NP_001394545.1:p.Lys793fs frameshift NM_001407617.1:c.2376del NP_001394546.1:p.Lys793fs frameshift NM_001407618.1:c.2376del NP_001394547.1:p.Lys793fs frameshift NM_001407619.1:c.2376del NP_001394548.1:p.Lys793fs frameshift NM_001407620.1:c.2376del NP_001394549.1:p.Lys793fs frameshift NM_001407621.1:c.2376del NP_001394550.1:p.Lys793fs frameshift NM_001407622.1:c.2376del NP_001394551.1:p.Lys793fs frameshift NM_001407623.1:c.2376del NP_001394552.1:p.Lys793fs frameshift NM_001407624.1:c.2376del NP_001394553.1:p.Lys793fs frameshift NM_001407625.1:c.2376del NP_001394554.1:p.Lys793fs frameshift NM_001407626.1:c.2376del NP_001394555.1:p.Lys793fs frameshift NM_001407627.1:c.2373del NP_001394556.1:p.Lys792fs frameshift NM_001407628.1:c.2373del NP_001394557.1:p.Lys792fs frameshift NM_001407629.1:c.2373del NP_001394558.1:p.Lys792fs frameshift NM_001407630.1:c.2373del NP_001394559.1:p.Lys792fs frameshift NM_001407631.1:c.2373del NP_001394560.1:p.Lys792fs frameshift NM_001407632.1:c.2373del NP_001394561.1:p.Lys792fs frameshift NM_001407633.1:c.2373del NP_001394562.1:p.Lys792fs frameshift NM_001407634.1:c.2373del NP_001394563.1:p.Lys792fs frameshift NM_001407635.1:c.2373del NP_001394564.1:p.Lys792fs frameshift NM_001407636.1:c.2373del NP_001394565.1:p.Lys792fs frameshift NM_001407637.1:c.2373del NP_001394566.1:p.Lys792fs frameshift NM_001407638.1:c.2373del NP_001394567.1:p.Lys792fs frameshift NM_001407639.1:c.2376del NP_001394568.1:p.Lys793fs frameshift NM_001407640.1:c.2376del NP_001394569.1:p.Lys793fs frameshift NM_001407641.1:c.2376del NP_001394570.1:p.Lys793fs frameshift NM_001407642.1:c.2376del NP_001394571.1:p.Lys793fs frameshift NM_001407644.1:c.2373del NP_001394573.1:p.Lys792fs frameshift NM_001407645.1:c.2373del NP_001394574.1:p.Lys792fs frameshift NM_001407646.1:c.2367del NP_001394575.1:p.Lys790fs frameshift NM_001407647.1:c.2367del NP_001394576.1:p.Lys790fs frameshift NM_001407648.1:c.2253del NP_001394577.1:p.Lys752fs frameshift NM_001407649.1:c.2250del NP_001394578.1:p.Lys751fs frameshift NM_001407652.1:c.2376del NP_001394581.1:p.Lys793fs frameshift NM_001407653.1:c.2298del NP_001394582.1:p.Lys767fs frameshift NM_001407654.1:c.2298del NP_001394583.1:p.Lys767fs frameshift NM_001407655.1:c.2298del NP_001394584.1:p.Lys767fs frameshift NM_001407656.1:c.2298del NP_001394585.1:p.Lys767fs frameshift NM_001407657.1:c.2298del NP_001394586.1:p.Lys767fs frameshift NM_001407658.1:c.2298del NP_001394587.1:p.Lys767fs frameshift NM_001407659.1:c.2295del NP_001394588.1:p.Lys766fs frameshift NM_001407660.1:c.2295del NP_001394589.1:p.Lys766fs frameshift NM_001407661.1:c.2295del NP_001394590.1:p.Lys766fs frameshift NM_001407662.1:c.2295del NP_001394591.1:p.Lys766fs frameshift NM_001407663.1:c.2298del NP_001394592.1:p.Lys767fs frameshift NM_001407664.1:c.2253del NP_001394593.1:p.Lys752fs frameshift NM_001407665.1:c.2253del NP_001394594.1:p.Lys752fs frameshift NM_001407666.1:c.2253del NP_001394595.1:p.Lys752fs frameshift NM_001407667.1:c.2253del NP_001394596.1:p.Lys752fs frameshift NM_001407668.1:c.2253del NP_001394597.1:p.Lys752fs frameshift NM_001407669.1:c.2253del NP_001394598.1:p.Lys752fs frameshift NM_001407670.1:c.2250del NP_001394599.1:p.Lys751fs frameshift NM_001407671.1:c.2250del NP_001394600.1:p.Lys751fs frameshift NM_001407672.1:c.2250del NP_001394601.1:p.Lys751fs frameshift NM_001407673.1:c.2250del NP_001394602.1:p.Lys751fs frameshift NM_001407674.1:c.2253del NP_001394603.1:p.Lys752fs frameshift NM_001407675.1:c.2253del NP_001394604.1:p.Lys752fs frameshift NM_001407676.1:c.2253del NP_001394605.1:p.Lys752fs frameshift NM_001407677.1:c.2253del NP_001394606.1:p.Lys752fs frameshift NM_001407678.1:c.2253del NP_001394607.1:p.Lys752fs frameshift NM_001407679.1:c.2253del NP_001394608.1:p.Lys752fs frameshift NM_001407680.1:c.2253del NP_001394609.1:p.Lys752fs frameshift NM_001407681.1:c.2253del NP_001394610.1:p.Lys752fs frameshift NM_001407682.1:c.2253del NP_001394611.1:p.Lys752fs frameshift NM_001407683.1:c.2253del NP_001394612.1:p.Lys752fs frameshift NM_001407684.1:c.2376del NP_001394613.1:p.Lys793fs frameshift NM_001407685.1:c.2250del NP_001394614.1:p.Lys751fs frameshift NM_001407686.1:c.2250del NP_001394615.1:p.Lys751fs frameshift NM_001407687.1:c.2250del NP_001394616.1:p.Lys751fs frameshift NM_001407688.1:c.2250del NP_001394617.1:p.Lys751fs frameshift NM_001407689.1:c.2250del NP_001394618.1:p.Lys751fs frameshift NM_001407690.1:c.2250del NP_001394619.1:p.Lys751fs frameshift NM_001407691.1:c.2250del NP_001394620.1:p.Lys751fs frameshift NM_001407692.1:c.2235del NP_001394621.1:p.Lys746fs frameshift NM_001407694.1:c.2235del NP_001394623.1:p.Lys746fs frameshift NM_001407695.1:c.2235del NP_001394624.1:p.Lys746fs frameshift NM_001407696.1:c.2235del NP_001394625.1:p.Lys746fs frameshift NM_001407697.1:c.2235del NP_001394626.1:p.Lys746fs frameshift NM_001407698.1:c.2235del NP_001394627.1:p.Lys746fs frameshift NM_001407724.1:c.2235del NP_001394653.1:p.Lys746fs frameshift NM_001407725.1:c.2235del NP_001394654.1:p.Lys746fs frameshift NM_001407726.1:c.2235del NP_001394655.1:p.Lys746fs frameshift NM_001407727.1:c.2235del NP_001394656.1:p.Lys746fs frameshift NM_001407728.1:c.2235del NP_001394657.1:p.Lys746fs frameshift NM_001407729.1:c.2235del NP_001394658.1:p.Lys746fs frameshift NM_001407730.1:c.2235del NP_001394659.1:p.Lys746fs frameshift NM_001407731.1:c.2235del NP_001394660.1:p.Lys746fs frameshift NM_001407732.1:c.2235del NP_001394661.1:p.Lys746fs frameshift NM_001407733.1:c.2235del NP_001394662.1:p.Lys746fs frameshift NM_001407734.1:c.2235del NP_001394663.1:p.Lys746fs frameshift NM_001407735.1:c.2235del NP_001394664.1:p.Lys746fs frameshift NM_001407736.1:c.2235del NP_001394665.1:p.Lys746fs frameshift NM_001407737.1:c.2235del NP_001394666.1:p.Lys746fs frameshift NM_001407738.1:c.2235del NP_001394667.1:p.Lys746fs frameshift NM_001407739.1:c.2235del NP_001394668.1:p.Lys746fs frameshift NM_001407740.1:c.2232del NP_001394669.1:p.Lys745fs frameshift NM_001407741.1:c.2232del NP_001394670.1:p.Lys745fs frameshift NM_001407742.1:c.2232del NP_001394671.1:p.Lys745fs frameshift NM_001407743.1:c.2232del NP_001394672.1:p.Lys745fs frameshift NM_001407744.1:c.2232del NP_001394673.1:p.Lys745fs frameshift NM_001407745.1:c.2232del NP_001394674.1:p.Lys745fs frameshift NM_001407746.1:c.2232del NP_001394675.1:p.Lys745fs frameshift NM_001407747.1:c.2232del NP_001394676.1:p.Lys745fs frameshift NM_001407748.1:c.2232del NP_001394677.1:p.Lys745fs frameshift NM_001407749.1:c.2232del NP_001394678.1:p.Lys745fs frameshift NM_001407750.1:c.2235del NP_001394679.1:p.Lys746fs frameshift NM_001407751.1:c.2235del NP_001394680.1:p.Lys746fs frameshift NM_001407752.1:c.2235del NP_001394681.1:p.Lys746fs frameshift NM_001407838.1:c.2232del NP_001394767.1:p.Lys745fs frameshift NM_001407839.1:c.2232del NP_001394768.1:p.Lys745fs frameshift NM_001407841.1:c.2232del NP_001394770.1:p.Lys745fs frameshift NM_001407842.1:c.2232del NP_001394771.1:p.Lys745fs frameshift NM_001407843.1:c.2232del NP_001394772.1:p.Lys745fs frameshift NM_001407844.1:c.2232del NP_001394773.1:p.Lys745fs frameshift NM_001407845.1:c.2232del NP_001394774.1:p.Lys745fs frameshift NM_001407846.1:c.2232del NP_001394775.1:p.Lys745fs frameshift NM_001407847.1:c.2232del NP_001394776.1:p.Lys745fs frameshift NM_001407848.1:c.2232del NP_001394777.1:p.Lys745fs frameshift NM_001407849.1:c.2232del NP_001394778.1:p.Lys745fs frameshift NM_001407850.1:c.2235del NP_001394779.1:p.Lys746fs frameshift NM_001407851.1:c.2235del NP_001394780.1:p.Lys746fs frameshift NM_001407852.1:c.2235del NP_001394781.1:p.Lys746fs frameshift NM_001407853.1:c.2163del NP_001394782.1:p.Lys722fs frameshift NM_001407854.1:c.2376del NP_001394783.1:p.Lys793fs frameshift NM_001407858.1:c.2376del NP_001394787.1:p.Lys793fs frameshift NM_001407859.1:c.2376del NP_001394788.1:p.Lys793fs frameshift NM_001407860.1:c.2373del NP_001394789.1:p.Lys792fs frameshift NM_001407861.1:c.2373del NP_001394790.1:p.Lys792fs frameshift NM_001407862.1:c.2175del NP_001394791.1:p.Lys726fs frameshift NM_001407863.1:c.2253del NP_001394792.1:p.Lys752fs frameshift NM_001407874.1:c.2172del NP_001394803.1:p.Lys725fs frameshift NM_001407875.1:c.2172del NP_001394804.1:p.Lys725fs frameshift NM_001407879.1:c.2166del NP_001394808.1:p.Lys723fs frameshift NM_001407881.1:c.2166del NP_001394810.1:p.Lys723fs frameshift NM_001407882.1:c.2166del NP_001394811.1:p.Lys723fs frameshift NM_001407884.1:c.2166del NP_001394813.1:p.Lys723fs frameshift NM_001407885.1:c.2166del NP_001394814.1:p.Lys723fs frameshift NM_001407886.1:c.2166del NP_001394815.1:p.Lys723fs frameshift NM_001407887.1:c.2166del NP_001394816.1:p.Lys723fs frameshift NM_001407889.1:c.2166del NP_001394818.1:p.Lys723fs frameshift NM_001407894.1:c.2163del NP_001394823.1:p.Lys722fs frameshift NM_001407895.1:c.2163del NP_001394824.1:p.Lys722fs frameshift NM_001407896.1:c.2163del NP_001394825.1:p.Lys722fs frameshift NM_001407897.1:c.2163del NP_001394826.1:p.Lys722fs frameshift NM_001407898.1:c.2163del NP_001394827.1:p.Lys722fs frameshift NM_001407899.1:c.2163del NP_001394828.1:p.Lys722fs frameshift NM_001407900.1:c.2166del NP_001394829.1:p.Lys723fs frameshift NM_001407902.1:c.2166del NP_001394831.1:p.Lys723fs frameshift NM_001407904.1:c.2166del NP_001394833.1:p.Lys723fs frameshift NM_001407906.1:c.2166del NP_001394835.1:p.Lys723fs frameshift NM_001407907.1:c.2166del NP_001394836.1:p.Lys723fs frameshift NM_001407908.1:c.2166del NP_001394837.1:p.Lys723fs frameshift NM_001407909.1:c.2166del NP_001394838.1:p.Lys723fs frameshift NM_001407910.1:c.2166del NP_001394839.1:p.Lys723fs frameshift NM_001407915.1:c.2163del NP_001394844.1:p.Lys722fs frameshift NM_001407916.1:c.2163del NP_001394845.1:p.Lys722fs frameshift NM_001407917.1:c.2163del NP_001394846.1:p.Lys722fs frameshift NM_001407918.1:c.2163del NP_001394847.1:p.Lys722fs frameshift NM_001407919.1:c.2253del NP_001394848.1:p.Lys752fs frameshift NM_001407920.1:c.2112del NP_001394849.1:p.Lys705fs frameshift NM_001407921.1:c.2112del NP_001394850.1:p.Lys705fs frameshift NM_001407922.1:c.2112del NP_001394851.1:p.Lys705fs frameshift NM_001407923.1:c.2112del NP_001394852.1:p.Lys705fs frameshift NM_001407924.1:c.2112del NP_001394853.1:p.Lys705fs frameshift NM_001407925.1:c.2112del NP_001394854.1:p.Lys705fs frameshift NM_001407926.1:c.2112del NP_001394855.1:p.Lys705fs frameshift NM_001407927.1:c.2112del NP_001394856.1:p.Lys705fs frameshift NM_001407928.1:c.2112del NP_001394857.1:p.Lys705fs frameshift NM_001407929.1:c.2112del NP_001394858.1:p.Lys705fs frameshift NM_001407930.1:c.2109del NP_001394859.1:p.Lys704fs frameshift NM_001407931.1:c.2109del NP_001394860.1:p.Lys704fs frameshift NM_001407932.1:c.2109del NP_001394861.1:p.Lys704fs frameshift NM_001407933.1:c.2112del NP_001394862.1:p.Lys705fs frameshift NM_001407934.1:c.2109del NP_001394863.1:p.Lys704fs frameshift NM_001407935.1:c.2112del NP_001394864.1:p.Lys705fs frameshift NM_001407936.1:c.2109del NP_001394865.1:p.Lys704fs frameshift NM_001407937.1:c.2253del NP_001394866.1:p.Lys752fs frameshift NM_001407938.1:c.2253del NP_001394867.1:p.Lys752fs frameshift NM_001407939.1:c.2253del NP_001394868.1:p.Lys752fs frameshift NM_001407940.1:c.2250del NP_001394869.1:p.Lys751fs frameshift NM_001407941.1:c.2250del NP_001394870.1:p.Lys751fs frameshift NM_001407942.1:c.2235del NP_001394871.1:p.Lys746fs frameshift NM_001407943.1:c.2232del NP_001394872.1:p.Lys745fs frameshift NM_001407944.1:c.2235del NP_001394873.1:p.Lys746fs frameshift NM_001407945.1:c.2235del NP_001394874.1:p.Lys746fs frameshift NM_001407946.1:c.2043del NP_001394875.1:p.Lys682fs frameshift NM_001407947.1:c.2043del NP_001394876.1:p.Lys682fs frameshift NM_001407948.1:c.2043del NP_001394877.1:p.Lys682fs frameshift NM_001407949.1:c.2043del NP_001394878.1:p.Lys682fs frameshift NM_001407950.1:c.2043del NP_001394879.1:p.Lys682fs frameshift NM_001407951.1:c.2043del NP_001394880.1:p.Lys682fs frameshift NM_001407952.1:c.2043del NP_001394881.1:p.Lys682fs frameshift NM_001407953.1:c.2043del NP_001394882.1:p.Lys682fs frameshift NM_001407954.1:c.2040del NP_001394883.1:p.Lys681fs frameshift NM_001407955.1:c.2040del NP_001394884.1:p.Lys681fs frameshift NM_001407956.1:c.2040del NP_001394885.1:p.Lys681fs frameshift NM_001407957.1:c.2043del NP_001394886.1:p.Lys682fs frameshift NM_001407958.1:c.2040del NP_001394887.1:p.Lys681fs frameshift NM_001407959.1:c.1995del NP_001394888.1:p.Lys666fs frameshift NM_001407960.1:c.1995del NP_001394889.1:p.Lys666fs frameshift NM_001407962.1:c.1992del NP_001394891.1:p.Lys665fs frameshift NM_001407963.1:c.1995del NP_001394892.1:p.Lys666fs frameshift NM_001407964.1:c.2232del NP_001394893.1:p.Lys745fs frameshift NM_001407965.1:c.1872del NP_001394894.1:p.Lys625fs frameshift NM_001407966.1:c.1488del NP_001394895.1:p.Lys497fs frameshift NM_001407967.1:c.1488del NP_001394896.1:p.Lys497fs frameshift NM_001407968.1:c.788-1016del intron variant NM_001407969.1:c.788-1016del intron variant NM_001407970.1:c.787+1589del intron variant NM_001407971.1:c.787+1589del intron variant NM_001407972.1:c.784+1589del intron variant NM_001407973.1:c.787+1589del intron variant NM_001407974.1:c.787+1589del intron variant NM_001407975.1:c.787+1589del intron variant NM_001407976.1:c.787+1589del intron variant NM_001407977.1:c.787+1589del intron variant NM_001407978.1:c.787+1589del intron variant NM_001407979.1:c.787+1589del intron variant NM_001407980.1:c.787+1589del intron variant NM_001407981.1:c.787+1589del intron variant NM_001407982.1:c.787+1589del intron variant NM_001407983.1:c.787+1589del intron variant NM_001407984.1:c.784+1589del intron variant NM_001407985.1:c.784+1589del intron variant NM_001407986.1:c.784+1589del intron variant NM_001407990.1:c.787+1589del intron variant NM_001407991.1:c.784+1589del intron variant NM_001407992.1:c.784+1589del intron variant NM_001407993.1:c.787+1589del intron variant NM_001408392.1:c.784+1589del intron variant NM_001408396.1:c.784+1589del intron variant NM_001408397.1:c.784+1589del intron variant NM_001408398.1:c.784+1589del intron variant NM_001408399.1:c.784+1589del intron variant NM_001408400.1:c.784+1589del intron variant NM_001408401.1:c.784+1589del intron variant NM_001408402.1:c.784+1589del intron variant NM_001408403.1:c.787+1589del intron variant NM_001408404.1:c.787+1589del intron variant NM_001408406.1:c.790+1586del intron variant NM_001408407.1:c.784+1589del intron variant NM_001408408.1:c.778+1589del intron variant NM_001408409.1:c.709+1589del intron variant NM_001408410.1:c.646+1589del intron variant NM_001408411.1:c.709+1589del intron variant NM_001408412.1:c.709+1589del intron variant NM_001408413.1:c.706+1589del intron variant NM_001408414.1:c.709+1589del intron variant NM_001408415.1:c.709+1589del intron variant NM_001408416.1:c.706+1589del intron variant NM_001408418.1:c.671-2123del intron variant NM_001408419.1:c.671-2123del intron variant NM_001408420.1:c.671-2123del intron variant NM_001408421.1:c.668-2123del intron variant NM_001408422.1:c.671-2123del intron variant NM_001408423.1:c.671-2123del intron variant NM_001408424.1:c.668-2123del intron variant NM_001408425.1:c.664+1589del intron variant NM_001408426.1:c.664+1589del intron variant NM_001408427.1:c.664+1589del intron variant NM_001408428.1:c.664+1589del intron variant NM_001408429.1:c.664+1589del intron variant NM_001408430.1:c.664+1589del intron variant NM_001408431.1:c.668-2123del intron variant NM_001408432.1:c.661+1589del intron variant NM_001408433.1:c.661+1589del intron variant NM_001408434.1:c.661+1589del intron variant NM_001408435.1:c.661+1589del intron variant NM_001408436.1:c.664+1589del intron variant NM_001408437.1:c.664+1589del intron variant NM_001408438.1:c.664+1589del intron variant NM_001408439.1:c.664+1589del intron variant NM_001408440.1:c.664+1589del intron variant NM_001408441.1:c.664+1589del intron variant NM_001408442.1:c.664+1589del intron variant NM_001408443.1:c.664+1589del intron variant NM_001408444.1:c.664+1589del intron variant NM_001408445.1:c.661+1589del intron variant NM_001408446.1:c.661+1589del intron variant NM_001408447.1:c.661+1589del intron variant NM_001408448.1:c.661+1589del intron variant NM_001408450.1:c.661+1589del intron variant NM_001408451.1:c.652+1589del intron variant NM_001408452.1:c.646+1589del intron variant NM_001408453.1:c.646+1589del intron variant NM_001408454.1:c.646+1589del intron variant NM_001408455.1:c.646+1589del intron variant NM_001408456.1:c.646+1589del intron variant NM_001408457.1:c.646+1589del intron variant NM_001408458.1:c.646+1589del intron variant NM_001408459.1:c.646+1589del intron variant NM_001408460.1:c.646+1589del intron variant NM_001408461.1:c.646+1589del intron variant NM_001408462.1:c.643+1589del intron variant NM_001408463.1:c.643+1589del intron variant NM_001408464.1:c.643+1589del intron variant NM_001408465.1:c.643+1589del intron variant NM_001408466.1:c.646+1589del intron variant NM_001408467.1:c.646+1589del intron variant NM_001408468.1:c.643+1589del intron variant NM_001408469.1:c.646+1589del intron variant NM_001408470.1:c.643+1589del intron variant NM_001408472.1:c.787+1589del intron variant NM_001408473.1:c.784+1589del intron variant NM_001408474.1:c.586+1589del intron variant NM_001408475.1:c.583+1589del intron variant NM_001408476.1:c.586+1589del intron variant NM_001408478.1:c.577+1589del intron variant NM_001408479.1:c.577+1589del intron variant NM_001408480.1:c.577+1589del intron variant NM_001408481.1:c.577+1589del intron variant NM_001408482.1:c.577+1589del intron variant NM_001408483.1:c.577+1589del intron variant NM_001408484.1:c.577+1589del intron variant NM_001408485.1:c.577+1589del intron variant NM_001408489.1:c.577+1589del intron variant NM_001408490.1:c.574+1589del intron variant NM_001408491.1:c.574+1589del intron variant NM_001408492.1:c.577+1589del intron variant NM_001408493.1:c.574+1589del intron variant NM_001408494.1:c.548-2123del intron variant NM_001408495.1:c.545-2123del intron variant NM_001408496.1:c.523+1589del intron variant NM_001408497.1:c.523+1589del intron variant NM_001408498.1:c.523+1589del intron variant NM_001408499.1:c.523+1589del intron variant NM_001408500.1:c.523+1589del intron variant NM_001408501.1:c.523+1589del intron variant NM_001408502.1:c.454+1589del intron variant NM_001408503.1:c.520+1589del intron variant NM_001408504.1:c.520+1589del intron variant NM_001408505.1:c.520+1589del intron variant NM_001408506.1:c.461-2123del intron variant NM_001408507.1:c.461-2123del intron variant NM_001408508.1:c.451+1589del intron variant NM_001408509.1:c.451+1589del intron variant NM_001408510.1:c.406+1589del intron variant NM_001408511.1:c.404-2123del intron variant NM_001408512.1:c.283+1589del intron variant NM_001408513.1:c.577+1589del intron variant NM_001408514.1:c.577+1589del intron variant NM_007294.3:c.2376delG frameshift NM_007297.4:c.2235del NP_009228.2:p.Lys746fs frameshift NM_007298.4:c.787+1589del intron variant NM_007299.4:c.787+1589del intron variant NM_007300.4:c.2376del NP_009231.2:p.Lys793fs frameshift NR_027676.1:n.2510delG NC_000017.11:g.43093157del NC_000017.10:g.41245174del NG_005905.2:g.124829del LRG_292:g.124829del LRG_292t1:c.2374del LRG_292p1:p.Lys793Argfs U14680.1:n.2495delG - Protein change
- K793fs, K746fs, K625fs, K745fs, K752fs, K665fs, K704fs, K722fs, K766fs, K767fs, K792fs, K497fs, K666fs, K723fs, K725fs, K681fs, K682fs, K705fs, K726fs, K751fs, K790fs
- Other names
- 2495delG
- Canonical SPDI
- NC_000017.11:43093154:CCC:CC
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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 | RCV000111837.4 |
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
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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: SCV000299753.2
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
(Nov 25, 2004)
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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: SCV000144396.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Turkish
|
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 rs80357913 ...
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.