Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1996del (p.Leu666fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1996del (p.Leu666fs)
Variation ID: 54429 Accession: VCV000054429.7
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093535 (GRCh38) [ NCBI UCSC ] 17: 41245552 (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 Feb 4, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.1996del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu666fs frameshift NM_001407571.1:c.1783del NP_001394500.1:p.Leu595fs frameshift NM_001407581.1:c.1996del NP_001394510.1:p.Leu666fs frameshift NM_001407582.1:c.1996del NP_001394511.1:p.Leu666fs frameshift NM_001407583.1:c.1996del NP_001394512.1:p.Leu666fs frameshift NM_001407585.1:c.1996del NP_001394514.1:p.Leu666fs frameshift NM_001407587.1:c.1993del NP_001394516.1:p.Leu665fs frameshift NM_001407590.1:c.1993del NP_001394519.1:p.Leu665fs frameshift NM_001407591.1:c.1993del NP_001394520.1:p.Leu665fs frameshift NM_001407593.1:c.1996del NP_001394522.1:p.Leu666fs frameshift NM_001407594.1:c.1996del NP_001394523.1:p.Leu666fs frameshift NM_001407596.1:c.1996del NP_001394525.1:p.Leu666fs frameshift NM_001407597.1:c.1996del NP_001394526.1:p.Leu666fs frameshift NM_001407598.1:c.1996del NP_001394527.1:p.Leu666fs frameshift NM_001407602.1:c.1996del NP_001394531.1:p.Leu666fs frameshift NM_001407603.1:c.1996del NP_001394532.1:p.Leu666fs frameshift NM_001407605.1:c.1996del NP_001394534.1:p.Leu666fs frameshift NM_001407610.1:c.1993del NP_001394539.1:p.Leu665fs frameshift NM_001407611.1:c.1993del NP_001394540.1:p.Leu665fs frameshift NM_001407612.1:c.1993del NP_001394541.1:p.Leu665fs frameshift NM_001407613.1:c.1993del NP_001394542.1:p.Leu665fs frameshift NM_001407614.1:c.1993del NP_001394543.1:p.Leu665fs frameshift NM_001407615.1:c.1993del NP_001394544.1:p.Leu665fs frameshift NM_001407616.1:c.1996del NP_001394545.1:p.Leu666fs frameshift NM_001407617.1:c.1996del NP_001394546.1:p.Leu666fs frameshift NM_001407618.1:c.1996del NP_001394547.1:p.Leu666fs frameshift NM_001407619.1:c.1996del NP_001394548.1:p.Leu666fs frameshift NM_001407620.1:c.1996del NP_001394549.1:p.Leu666fs frameshift NM_001407621.1:c.1996del NP_001394550.1:p.Leu666fs frameshift NM_001407622.1:c.1996del NP_001394551.1:p.Leu666fs frameshift NM_001407623.1:c.1996del NP_001394552.1:p.Leu666fs frameshift NM_001407624.1:c.1996del NP_001394553.1:p.Leu666fs frameshift NM_001407625.1:c.1996del NP_001394554.1:p.Leu666fs frameshift NM_001407626.1:c.1996del NP_001394555.1:p.Leu666fs frameshift NM_001407627.1:c.1993del NP_001394556.1:p.Leu665fs frameshift NM_001407628.1:c.1993del NP_001394557.1:p.Leu665fs frameshift NM_001407629.1:c.1993del NP_001394558.1:p.Leu665fs frameshift NM_001407630.1:c.1993del NP_001394559.1:p.Leu665fs frameshift NM_001407631.1:c.1993del NP_001394560.1:p.Leu665fs frameshift NM_001407632.1:c.1993del NP_001394561.1:p.Leu665fs frameshift NM_001407633.1:c.1993del NP_001394562.1:p.Leu665fs frameshift NM_001407634.1:c.1993del NP_001394563.1:p.Leu665fs frameshift NM_001407635.1:c.1993del NP_001394564.1:p.Leu665fs frameshift NM_001407636.1:c.1993del NP_001394565.1:p.Leu665fs frameshift NM_001407637.1:c.1993del NP_001394566.1:p.Leu665fs frameshift NM_001407638.1:c.1993del NP_001394567.1:p.Leu665fs frameshift NM_001407639.1:c.1996del NP_001394568.1:p.Leu666fs frameshift NM_001407640.1:c.1996del NP_001394569.1:p.Leu666fs frameshift NM_001407641.1:c.1996del NP_001394570.1:p.Leu666fs frameshift NM_001407642.1:c.1996del NP_001394571.1:p.Leu666fs frameshift NM_001407644.1:c.1993del NP_001394573.1:p.Leu665fs frameshift NM_001407645.1:c.1993del NP_001394574.1:p.Leu665fs frameshift NM_001407646.1:c.1987del NP_001394575.1:p.Leu663fs frameshift NM_001407647.1:c.1987del NP_001394576.1:p.Leu663fs frameshift NM_001407648.1:c.1873del NP_001394577.1:p.Leu625fs frameshift NM_001407649.1:c.1870del NP_001394578.1:p.Leu624fs frameshift NM_001407652.1:c.1996del NP_001394581.1:p.Leu666fs frameshift NM_001407653.1:c.1918del NP_001394582.1:p.Leu640fs frameshift NM_001407654.1:c.1918del NP_001394583.1:p.Leu640fs frameshift NM_001407655.1:c.1918del NP_001394584.1:p.Leu640fs frameshift NM_001407656.1:c.1918del NP_001394585.1:p.Leu640fs frameshift NM_001407657.1:c.1918del NP_001394586.1:p.Leu640fs frameshift NM_001407658.1:c.1918del NP_001394587.1:p.Leu640fs frameshift NM_001407659.1:c.1915del NP_001394588.1:p.Leu639fs frameshift NM_001407660.1:c.1915del NP_001394589.1:p.Leu639fs frameshift NM_001407661.1:c.1915del NP_001394590.1:p.Leu639fs frameshift NM_001407662.1:c.1915del NP_001394591.1:p.Leu639fs frameshift NM_001407663.1:c.1918del NP_001394592.1:p.Leu640fs frameshift NM_001407664.1:c.1873del NP_001394593.1:p.Leu625fs frameshift NM_001407665.1:c.1873del NP_001394594.1:p.Leu625fs frameshift NM_001407666.1:c.1873del NP_001394595.1:p.Leu625fs frameshift NM_001407667.1:c.1873del NP_001394596.1:p.Leu625fs frameshift NM_001407668.1:c.1873del NP_001394597.1:p.Leu625fs frameshift NM_001407669.1:c.1873del NP_001394598.1:p.Leu625fs frameshift NM_001407670.1:c.1870del NP_001394599.1:p.Leu624fs frameshift NM_001407671.1:c.1870del NP_001394600.1:p.Leu624fs frameshift NM_001407672.1:c.1870del NP_001394601.1:p.Leu624fs frameshift NM_001407673.1:c.1870del NP_001394602.1:p.Leu624fs frameshift NM_001407674.1:c.1873del NP_001394603.1:p.Leu625fs frameshift NM_001407675.1:c.1873del NP_001394604.1:p.Leu625fs frameshift NM_001407676.1:c.1873del NP_001394605.1:p.Leu625fs frameshift NM_001407677.1:c.1873del NP_001394606.1:p.Leu625fs frameshift NM_001407678.1:c.1873del NP_001394607.1:p.Leu625fs frameshift NM_001407679.1:c.1873del NP_001394608.1:p.Leu625fs frameshift NM_001407680.1:c.1873del NP_001394609.1:p.Leu625fs frameshift NM_001407681.1:c.1873del NP_001394610.1:p.Leu625fs frameshift NM_001407682.1:c.1873del NP_001394611.1:p.Leu625fs frameshift NM_001407683.1:c.1873del NP_001394612.1:p.Leu625fs frameshift NM_001407684.1:c.1996del NP_001394613.1:p.Leu666fs frameshift NM_001407685.1:c.1870del NP_001394614.1:p.Leu624fs frameshift NM_001407686.1:c.1870del NP_001394615.1:p.Leu624fs frameshift NM_001407687.1:c.1870del NP_001394616.1:p.Leu624fs frameshift NM_001407688.1:c.1870del NP_001394617.1:p.Leu624fs frameshift NM_001407689.1:c.1870del NP_001394618.1:p.Leu624fs frameshift NM_001407690.1:c.1870del NP_001394619.1:p.Leu624fs frameshift NM_001407691.1:c.1870del NP_001394620.1:p.Leu624fs frameshift NM_001407692.1:c.1855del NP_001394621.1:p.Leu619fs frameshift NM_001407694.1:c.1855del NP_001394623.1:p.Leu619fs frameshift NM_001407695.1:c.1855del NP_001394624.1:p.Leu619fs frameshift NM_001407696.1:c.1855del NP_001394625.1:p.Leu619fs frameshift NM_001407697.1:c.1855del NP_001394626.1:p.Leu619fs frameshift NM_001407698.1:c.1855del NP_001394627.1:p.Leu619fs frameshift NM_001407724.1:c.1855del NP_001394653.1:p.Leu619fs frameshift NM_001407725.1:c.1855del NP_001394654.1:p.Leu619fs frameshift NM_001407726.1:c.1855del NP_001394655.1:p.Leu619fs frameshift NM_001407727.1:c.1855del NP_001394656.1:p.Leu619fs frameshift NM_001407728.1:c.1855del NP_001394657.1:p.Leu619fs frameshift NM_001407729.1:c.1855del NP_001394658.1:p.Leu619fs frameshift NM_001407730.1:c.1855del NP_001394659.1:p.Leu619fs frameshift NM_001407731.1:c.1855del NP_001394660.1:p.Leu619fs frameshift NM_001407732.1:c.1855del NP_001394661.1:p.Leu619fs frameshift NM_001407733.1:c.1855del NP_001394662.1:p.Leu619fs frameshift NM_001407734.1:c.1855del NP_001394663.1:p.Leu619fs frameshift NM_001407735.1:c.1855del NP_001394664.1:p.Leu619fs frameshift NM_001407736.1:c.1855del NP_001394665.1:p.Leu619fs frameshift NM_001407737.1:c.1855del NP_001394666.1:p.Leu619fs frameshift NM_001407738.1:c.1855del NP_001394667.1:p.Leu619fs frameshift NM_001407739.1:c.1855del NP_001394668.1:p.Leu619fs frameshift NM_001407740.1:c.1852del NP_001394669.1:p.Leu618fs frameshift NM_001407741.1:c.1852del NP_001394670.1:p.Leu618fs frameshift NM_001407742.1:c.1852del NP_001394671.1:p.Leu618fs frameshift NM_001407743.1:c.1852del NP_001394672.1:p.Leu618fs frameshift NM_001407744.1:c.1852del NP_001394673.1:p.Leu618fs frameshift NM_001407745.1:c.1852del NP_001394674.1:p.Leu618fs frameshift NM_001407746.1:c.1852del NP_001394675.1:p.Leu618fs frameshift NM_001407747.1:c.1852del NP_001394676.1:p.Leu618fs frameshift NM_001407748.1:c.1852del NP_001394677.1:p.Leu618fs frameshift NM_001407749.1:c.1852del NP_001394678.1:p.Leu618fs frameshift NM_001407750.1:c.1855del NP_001394679.1:p.Leu619fs frameshift NM_001407751.1:c.1855del NP_001394680.1:p.Leu619fs frameshift NM_001407752.1:c.1855del NP_001394681.1:p.Leu619fs frameshift NM_001407838.1:c.1852del NP_001394767.1:p.Leu618fs frameshift NM_001407839.1:c.1852del NP_001394768.1:p.Leu618fs frameshift NM_001407841.1:c.1852del NP_001394770.1:p.Leu618fs frameshift NM_001407842.1:c.1852del NP_001394771.1:p.Leu618fs frameshift NM_001407843.1:c.1852del NP_001394772.1:p.Leu618fs frameshift NM_001407844.1:c.1852del NP_001394773.1:p.Leu618fs frameshift NM_001407845.1:c.1852del NP_001394774.1:p.Leu618fs frameshift NM_001407846.1:c.1852del NP_001394775.1:p.Leu618fs frameshift NM_001407847.1:c.1852del NP_001394776.1:p.Leu618fs frameshift NM_001407848.1:c.1852del NP_001394777.1:p.Leu618fs frameshift NM_001407849.1:c.1852del NP_001394778.1:p.Leu618fs frameshift NM_001407850.1:c.1855del NP_001394779.1:p.Leu619fs frameshift NM_001407851.1:c.1855del NP_001394780.1:p.Leu619fs frameshift NM_001407852.1:c.1855del NP_001394781.1:p.Leu619fs frameshift NM_001407853.1:c.1783del NP_001394782.1:p.Leu595fs frameshift NM_001407854.1:c.1996del NP_001394783.1:p.Leu666fs frameshift NM_001407858.1:c.1996del NP_001394787.1:p.Leu666fs frameshift NM_001407859.1:c.1996del NP_001394788.1:p.Leu666fs frameshift NM_001407860.1:c.1993del NP_001394789.1:p.Leu665fs frameshift NM_001407861.1:c.1993del NP_001394790.1:p.Leu665fs frameshift NM_001407862.1:c.1795del NP_001394791.1:p.Leu599fs frameshift NM_001407863.1:c.1873del NP_001394792.1:p.Leu625fs frameshift NM_001407874.1:c.1792del NP_001394803.1:p.Leu598fs frameshift NM_001407875.1:c.1792del NP_001394804.1:p.Leu598fs frameshift NM_001407879.1:c.1786del NP_001394808.1:p.Leu596fs frameshift NM_001407881.1:c.1786del NP_001394810.1:p.Leu596fs frameshift NM_001407882.1:c.1786del NP_001394811.1:p.Leu596fs frameshift NM_001407884.1:c.1786del NP_001394813.1:p.Leu596fs frameshift NM_001407885.1:c.1786del NP_001394814.1:p.Leu596fs frameshift NM_001407886.1:c.1786del NP_001394815.1:p.Leu596fs frameshift NM_001407887.1:c.1786del NP_001394816.1:p.Leu596fs frameshift NM_001407889.1:c.1786del NP_001394818.1:p.Leu596fs frameshift NM_001407894.1:c.1783del NP_001394823.1:p.Leu595fs frameshift NM_001407895.1:c.1783del NP_001394824.1:p.Leu595fs frameshift NM_001407896.1:c.1783del NP_001394825.1:p.Leu595fs frameshift NM_001407897.1:c.1783del NP_001394826.1:p.Leu595fs frameshift NM_001407898.1:c.1783del NP_001394827.1:p.Leu595fs frameshift NM_001407899.1:c.1783del NP_001394828.1:p.Leu595fs frameshift NM_001407900.1:c.1786del NP_001394829.1:p.Leu596fs frameshift NM_001407902.1:c.1786del NP_001394831.1:p.Leu596fs frameshift NM_001407904.1:c.1786del NP_001394833.1:p.Leu596fs frameshift NM_001407906.1:c.1786del NP_001394835.1:p.Leu596fs frameshift NM_001407907.1:c.1786del NP_001394836.1:p.Leu596fs frameshift NM_001407908.1:c.1786del NP_001394837.1:p.Leu596fs frameshift NM_001407909.1:c.1786del NP_001394838.1:p.Leu596fs frameshift NM_001407910.1:c.1786del NP_001394839.1:p.Leu596fs frameshift NM_001407915.1:c.1783del NP_001394844.1:p.Leu595fs frameshift NM_001407916.1:c.1783del NP_001394845.1:p.Leu595fs frameshift NM_001407917.1:c.1783del NP_001394846.1:p.Leu595fs frameshift NM_001407918.1:c.1783del NP_001394847.1:p.Leu595fs frameshift NM_001407919.1:c.1873del NP_001394848.1:p.Leu625fs frameshift NM_001407920.1:c.1732del NP_001394849.1:p.Leu578fs frameshift NM_001407921.1:c.1732del NP_001394850.1:p.Leu578fs frameshift NM_001407922.1:c.1732del NP_001394851.1:p.Leu578fs frameshift NM_001407923.1:c.1732del NP_001394852.1:p.Leu578fs frameshift NM_001407924.1:c.1732del NP_001394853.1:p.Leu578fs frameshift NM_001407925.1:c.1732del NP_001394854.1:p.Leu578fs frameshift NM_001407926.1:c.1732del NP_001394855.1:p.Leu578fs frameshift NM_001407927.1:c.1732del NP_001394856.1:p.Leu578fs frameshift NM_001407928.1:c.1732del NP_001394857.1:p.Leu578fs frameshift NM_001407929.1:c.1732del NP_001394858.1:p.Leu578fs frameshift NM_001407930.1:c.1729del NP_001394859.1:p.Leu577fs frameshift NM_001407931.1:c.1729del NP_001394860.1:p.Leu577fs frameshift NM_001407932.1:c.1729del NP_001394861.1:p.Leu577fs frameshift NM_001407933.1:c.1732del NP_001394862.1:p.Leu578fs frameshift NM_001407934.1:c.1729del NP_001394863.1:p.Leu577fs frameshift NM_001407935.1:c.1732del NP_001394864.1:p.Leu578fs frameshift NM_001407936.1:c.1729del NP_001394865.1:p.Leu577fs frameshift NM_001407937.1:c.1873del NP_001394866.1:p.Leu625fs frameshift NM_001407938.1:c.1873del NP_001394867.1:p.Leu625fs frameshift NM_001407939.1:c.1873del NP_001394868.1:p.Leu625fs frameshift NM_001407940.1:c.1870del NP_001394869.1:p.Leu624fs frameshift NM_001407941.1:c.1870del NP_001394870.1:p.Leu624fs frameshift NM_001407942.1:c.1855del NP_001394871.1:p.Leu619fs frameshift NM_001407943.1:c.1852del NP_001394872.1:p.Leu618fs frameshift NM_001407944.1:c.1855del NP_001394873.1:p.Leu619fs frameshift NM_001407945.1:c.1855del NP_001394874.1:p.Leu619fs frameshift NM_001407946.1:c.1663del NP_001394875.1:p.Leu555fs frameshift NM_001407947.1:c.1663del NP_001394876.1:p.Leu555fs frameshift NM_001407948.1:c.1663del NP_001394877.1:p.Leu555fs frameshift NM_001407949.1:c.1663del NP_001394878.1:p.Leu555fs frameshift NM_001407950.1:c.1663del NP_001394879.1:p.Leu555fs frameshift NM_001407951.1:c.1663del NP_001394880.1:p.Leu555fs frameshift NM_001407952.1:c.1663del NP_001394881.1:p.Leu555fs frameshift NM_001407953.1:c.1663del NP_001394882.1:p.Leu555fs frameshift NM_001407954.1:c.1660del NP_001394883.1:p.Leu554fs frameshift NM_001407955.1:c.1660del NP_001394884.1:p.Leu554fs frameshift NM_001407956.1:c.1660del NP_001394885.1:p.Leu554fs frameshift NM_001407957.1:c.1663del NP_001394886.1:p.Leu555fs frameshift NM_001407958.1:c.1660del NP_001394887.1:p.Leu554fs frameshift NM_001407959.1:c.1615del NP_001394888.1:p.Leu539fs frameshift NM_001407960.1:c.1615del NP_001394889.1:p.Leu539fs frameshift NM_001407962.1:c.1612del NP_001394891.1:p.Leu538fs frameshift NM_001407963.1:c.1615del NP_001394892.1:p.Leu539fs frameshift NM_001407964.1:c.1852del NP_001394893.1:p.Leu618fs frameshift NM_001407965.1:c.1492del NP_001394894.1:p.Leu498fs frameshift NM_001407966.1:c.1108del NP_001394895.1:p.Leu370fs frameshift NM_001407967.1:c.1108del NP_001394896.1:p.Leu370fs frameshift NM_001407968.1:c.787+1209del intron variant NM_001407969.1:c.787+1209del intron variant NM_001407970.1:c.787+1209del intron variant NM_001407971.1:c.787+1209del intron variant NM_001407972.1:c.784+1209del intron variant NM_001407973.1:c.787+1209del intron variant NM_001407974.1:c.787+1209del intron variant NM_001407975.1:c.787+1209del intron variant NM_001407976.1:c.787+1209del intron variant NM_001407977.1:c.787+1209del intron variant NM_001407978.1:c.787+1209del intron variant NM_001407979.1:c.787+1209del intron variant NM_001407980.1:c.787+1209del intron variant NM_001407981.1:c.787+1209del intron variant NM_001407982.1:c.787+1209del intron variant NM_001407983.1:c.787+1209del intron variant NM_001407984.1:c.784+1209del intron variant NM_001407985.1:c.784+1209del intron variant NM_001407986.1:c.784+1209del intron variant NM_001407990.1:c.787+1209del intron variant NM_001407991.1:c.784+1209del intron variant NM_001407992.1:c.784+1209del intron variant NM_001407993.1:c.787+1209del intron variant NM_001408392.1:c.784+1209del intron variant NM_001408396.1:c.784+1209del intron variant NM_001408397.1:c.784+1209del intron variant NM_001408398.1:c.784+1209del intron variant NM_001408399.1:c.784+1209del intron variant NM_001408400.1:c.784+1209del intron variant NM_001408401.1:c.784+1209del intron variant NM_001408402.1:c.784+1209del intron variant NM_001408403.1:c.787+1209del intron variant NM_001408404.1:c.787+1209del intron variant NM_001408406.1:c.790+1206del intron variant NM_001408407.1:c.784+1209del intron variant NM_001408408.1:c.778+1209del intron variant NM_001408409.1:c.709+1209del intron variant NM_001408410.1:c.646+1209del intron variant NM_001408411.1:c.709+1209del intron variant NM_001408412.1:c.709+1209del intron variant NM_001408413.1:c.706+1209del intron variant NM_001408414.1:c.709+1209del intron variant NM_001408415.1:c.709+1209del intron variant NM_001408416.1:c.706+1209del intron variant NM_001408418.1:c.670+2311del intron variant NM_001408419.1:c.670+2311del intron variant NM_001408420.1:c.670+2311del intron variant NM_001408421.1:c.667+2311del intron variant NM_001408422.1:c.670+2311del intron variant NM_001408423.1:c.670+2311del intron variant NM_001408424.1:c.667+2311del intron variant NM_001408425.1:c.664+1209del intron variant NM_001408426.1:c.664+1209del intron variant NM_001408427.1:c.664+1209del intron variant NM_001408428.1:c.664+1209del intron variant NM_001408429.1:c.664+1209del intron variant NM_001408430.1:c.664+1209del intron variant NM_001408431.1:c.667+2311del intron variant NM_001408432.1:c.661+1209del intron variant NM_001408433.1:c.661+1209del intron variant NM_001408434.1:c.661+1209del intron variant NM_001408435.1:c.661+1209del intron variant NM_001408436.1:c.664+1209del intron variant NM_001408437.1:c.664+1209del intron variant NM_001408438.1:c.664+1209del intron variant NM_001408439.1:c.664+1209del intron variant NM_001408440.1:c.664+1209del intron variant NM_001408441.1:c.664+1209del intron variant NM_001408442.1:c.664+1209del intron variant NM_001408443.1:c.664+1209del intron variant NM_001408444.1:c.664+1209del intron variant NM_001408445.1:c.661+1209del intron variant NM_001408446.1:c.661+1209del intron variant NM_001408447.1:c.661+1209del intron variant NM_001408448.1:c.661+1209del intron variant NM_001408450.1:c.661+1209del intron variant NM_001408451.1:c.652+1209del intron variant NM_001408452.1:c.646+1209del intron variant NM_001408453.1:c.646+1209del intron variant NM_001408454.1:c.646+1209del intron variant NM_001408455.1:c.646+1209del intron variant NM_001408456.1:c.646+1209del intron variant NM_001408457.1:c.646+1209del intron variant NM_001408458.1:c.646+1209del intron variant NM_001408459.1:c.646+1209del intron variant NM_001408460.1:c.646+1209del intron variant NM_001408461.1:c.646+1209del intron variant NM_001408462.1:c.643+1209del intron variant NM_001408463.1:c.643+1209del intron variant NM_001408464.1:c.643+1209del intron variant NM_001408465.1:c.643+1209del intron variant NM_001408466.1:c.646+1209del intron variant NM_001408467.1:c.646+1209del intron variant NM_001408468.1:c.643+1209del intron variant NM_001408469.1:c.646+1209del intron variant NM_001408470.1:c.643+1209del intron variant NM_001408472.1:c.787+1209del intron variant NM_001408473.1:c.784+1209del intron variant NM_001408474.1:c.586+1209del intron variant NM_001408475.1:c.583+1209del intron variant NM_001408476.1:c.586+1209del intron variant NM_001408478.1:c.577+1209del intron variant NM_001408479.1:c.577+1209del intron variant NM_001408480.1:c.577+1209del intron variant NM_001408481.1:c.577+1209del intron variant NM_001408482.1:c.577+1209del intron variant NM_001408483.1:c.577+1209del intron variant NM_001408484.1:c.577+1209del intron variant NM_001408485.1:c.577+1209del intron variant NM_001408489.1:c.577+1209del intron variant NM_001408490.1:c.574+1209del intron variant NM_001408491.1:c.574+1209del intron variant NM_001408492.1:c.577+1209del intron variant NM_001408493.1:c.574+1209del intron variant NM_001408494.1:c.548-2503del intron variant NM_001408495.1:c.545-2503del intron variant NM_001408496.1:c.523+1209del intron variant NM_001408497.1:c.523+1209del intron variant NM_001408498.1:c.523+1209del intron variant NM_001408499.1:c.523+1209del intron variant NM_001408500.1:c.523+1209del intron variant NM_001408501.1:c.523+1209del intron variant NM_001408502.1:c.454+1209del intron variant NM_001408503.1:c.520+1209del intron variant NM_001408504.1:c.520+1209del intron variant NM_001408505.1:c.520+1209del intron variant NM_001408506.1:c.460+2311del intron variant NM_001408507.1:c.460+2311del intron variant NM_001408508.1:c.451+1209del intron variant NM_001408509.1:c.451+1209del intron variant NM_001408510.1:c.406+1209del intron variant NM_001408511.1:c.404-2503del intron variant NM_001408512.1:c.283+1209del intron variant NM_001408513.1:c.577+1209del intron variant NM_001408514.1:c.577+1209del intron variant NM_007294.3:c.1996delC frameshift NM_007297.4:c.1855del NP_009228.2:p.Leu619fs frameshift NM_007298.4:c.787+1209del intron variant NM_007299.4:c.787+1209del intron variant NM_007300.4:c.1996del NP_009231.2:p.Leu666fs frameshift NR_027676.1:n.2131delC NC_000017.11:g.43093536del NC_000017.10:g.41245553del NG_005905.2:g.124449del LRG_292:g.124449del LRG_292t1:c.1995del LRG_292p1:p.Leu666Tyrfs U14680.1:n.2115delC - Protein change
- L619fs, L666fs, L555fs, L577fs, L598fs, L618fs, L665fs, L498fs, L578fs, L599fs, L624fs, L640fs, L538fs, L554fs, L625fs, L370fs, L539fs, L595fs, L596fs, L639fs, L663fs
- Other names
-
2115delC
- Canonical SPDI
- NC_000017.11:43093534:GG:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
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 | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13041 | 14847 | |
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. |
|---|---|---|---|---|
| Pathogenic (4) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000111747.13 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 14, 2022 | RCV003133126.10 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV000299681.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 17, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000785630.2
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
|
|
|
Pathogenic
(Dec 14, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003809712.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325208.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144269.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
Comment:
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients. | Hasmad HN | Gynecologic oncology | 2016 | PMID: 26541979 |
| Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. | Schneegans SM | Familial cancer | 2012 | PMID: 22160602 |
Text-mined citations for rs80357922 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 03, 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.