ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
Variation ID: 55596 Accession: VCV000055596.10
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045778 (GRCh38) [ NCBI UCSC ] 17: 41197795 (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 Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5492del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1831fs frameshift NM_001407571.1:c.5278delC NP_001394500.1:p.Pro1760Leufs frameshift NM_001407581.1:c.5557delC NP_001394510.1:p.Pro1853Leufs frameshift NM_001407582.1:c.5557delC NP_001394511.1:p.Pro1853Leufs frameshift NM_001407583.1:c.5554delC NP_001394512.1:p.Pro1852Leufs frameshift NM_001407585.1:c.5554delC NP_001394514.1:p.Pro1852Leufs frameshift NM_001407587.1:c.5554delC NP_001394516.1:p.Pro1852Leufs frameshift NM_001407590.1:c.5551delC NP_001394519.1:p.Pro1851Leufs frameshift NM_001407591.1:c.5551delC NP_001394520.1:p.Pro1851Leufs frameshift NM_001407593.1:c.5491delC NP_001394522.1:p.Pro1831Leufs frameshift NM_001407594.1:c.5491delC NP_001394523.1:p.Pro1831Leufs frameshift NM_001407596.1:c.5491delC NP_001394525.1:p.Pro1831Leufs frameshift NM_001407597.1:c.5491delC NP_001394526.1:p.Pro1831Leufs frameshift NM_001407598.1:c.5491delC NP_001394527.1:p.Pro1831Leufs frameshift NM_001407602.1:c.5491delC NP_001394531.1:p.Pro1831Leufs frameshift NM_001407603.1:c.5491delC NP_001394532.1:p.Pro1831Leufs frameshift NM_001407605.1:c.5491delC NP_001394534.1:p.Pro1831Leufs frameshift NM_001407610.1:c.5488delC NP_001394539.1:p.Pro1830Leufs frameshift NM_001407611.1:c.5488delC NP_001394540.1:p.Pro1830Leufs frameshift NM_001407612.1:c.5488delC NP_001394541.1:p.Pro1830Leufs frameshift NM_001407613.1:c.5488delC NP_001394542.1:p.Pro1830Leufs frameshift NM_001407614.1:c.5488delC NP_001394543.1:p.Pro1830Leufs frameshift NM_001407615.1:c.5488delC NP_001394544.1:p.Pro1830Leufs frameshift NM_001407616.1:c.5488delC NP_001394545.1:p.Pro1830Leufs frameshift NM_001407617.1:c.5488delC NP_001394546.1:p.Pro1830Leufs frameshift NM_001407618.1:c.5488delC NP_001394547.1:p.Pro1830Leufs frameshift NM_001407619.1:c.5488delC NP_001394548.1:p.Pro1830Leufs frameshift NM_001407620.1:c.5488delC NP_001394549.1:p.Pro1830Leufs frameshift NM_001407621.1:c.5488delC NP_001394550.1:p.Pro1830Leufs frameshift NM_001407622.1:c.5488delC NP_001394551.1:p.Pro1830Leufs frameshift NM_001407623.1:c.5488delC NP_001394552.1:p.Pro1830Leufs frameshift NM_001407624.1:c.5488delC NP_001394553.1:p.Pro1830Leufs frameshift NM_001407625.1:c.5488delC NP_001394554.1:p.Pro1830Leufs frameshift NM_001407626.1:c.5488delC NP_001394555.1:p.Pro1830Leufs frameshift NM_001407627.1:c.5485delC NP_001394556.1:p.Pro1829Leufs frameshift NM_001407628.1:c.5485delC NP_001394557.1:p.Pro1829Leufs frameshift NM_001407629.1:c.5485delC NP_001394558.1:p.Pro1829Leufs frameshift NM_001407630.1:c.5485delC NP_001394559.1:p.Pro1829Leufs frameshift NM_001407631.1:c.5485delC NP_001394560.1:p.Pro1829Leufs frameshift NM_001407632.1:c.5485delC NP_001394561.1:p.Pro1829Leufs frameshift NM_001407633.1:c.5485delC NP_001394562.1:p.Pro1829Leufs frameshift NM_001407634.1:c.5485delC NP_001394563.1:p.Pro1829Leufs frameshift NM_001407635.1:c.5485delC NP_001394564.1:p.Pro1829Leufs frameshift NM_001407636.1:c.5485delC NP_001394565.1:p.Pro1829Leufs frameshift NM_001407637.1:c.5485delC NP_001394566.1:p.Pro1829Leufs frameshift NM_001407638.1:c.5485delC NP_001394567.1:p.Pro1829Leufs frameshift NM_001407639.1:c.5485delC NP_001394568.1:p.Pro1829Leufs frameshift NM_001407640.1:c.5485delC NP_001394569.1:p.Pro1829Leufs frameshift NM_001407641.1:c.5485delC NP_001394570.1:p.Pro1829Leufs frameshift NM_001407642.1:c.5485delC NP_001394571.1:p.Pro1829Leufs frameshift NM_001407644.1:c.5482delC NP_001394573.1:p.Pro1828Leufs frameshift NM_001407645.1:c.5482delC NP_001394574.1:p.Pro1828Leufs frameshift NM_001407646.1:c.5479delC NP_001394575.1:p.Pro1827Leufs frameshift NM_001407647.1:c.5476delC NP_001394576.1:p.Pro1826Leufs frameshift NM_001407648.1:c.5434delC NP_001394577.1:p.Pro1812Leufs frameshift NM_001407649.1:c.5431delC NP_001394578.1:p.Pro1811Leufs frameshift NM_001407652.1:c.5413delC NP_001394581.1:p.Pro1805Leufs frameshift NM_001407653.1:c.5413delC NP_001394582.1:p.Pro1805Leufs frameshift NM_001407654.1:c.5413delC NP_001394583.1:p.Pro1805Leufs frameshift NM_001407655.1:c.5413delC NP_001394584.1:p.Pro1805Leufs frameshift NM_001407656.1:c.5410delC NP_001394585.1:p.Pro1804Leufs frameshift NM_001407657.1:c.5410delC NP_001394586.1:p.Pro1804Leufs frameshift NM_001407658.1:c.5410delC NP_001394587.1:p.Pro1804Leufs frameshift NM_001407659.1:c.5407delC NP_001394588.1:p.Pro1803Leufs frameshift NM_001407660.1:c.5407delC NP_001394589.1:p.Pro1803Leufs frameshift NM_001407661.1:c.5407delC NP_001394590.1:p.Pro1803Leufs frameshift NM_001407662.1:c.5407delC NP_001394591.1:p.Pro1803Leufs frameshift NM_001407663.1:c.5407delC NP_001394592.1:p.Pro1803Leufs frameshift NM_001407664.1:c.5368delC NP_001394593.1:p.Pro1790Leufs frameshift NM_001407665.1:c.5368delC NP_001394594.1:p.Pro1790Leufs frameshift NM_001407666.1:c.5368delC NP_001394595.1:p.Pro1790Leufs frameshift NM_001407667.1:c.5368delC NP_001394596.1:p.Pro1790Leufs frameshift NM_001407668.1:c.5368delC NP_001394597.1:p.Pro1790Leufs frameshift NM_001407669.1:c.5368delC NP_001394598.1:p.Pro1790Leufs frameshift NM_001407670.1:c.5365delC NP_001394599.1:p.Pro1789Leufs frameshift NM_001407671.1:c.5365delC NP_001394600.1:p.Pro1789Leufs frameshift NM_001407672.1:c.5365delC NP_001394601.1:p.Pro1789Leufs frameshift NM_001407673.1:c.5365delC NP_001394602.1:p.Pro1789Leufs frameshift NM_001407674.1:c.5365delC NP_001394603.1:p.Pro1789Leufs frameshift NM_001407675.1:c.5365delC NP_001394604.1:p.Pro1789Leufs frameshift NM_001407676.1:c.5365delC NP_001394605.1:p.Pro1789Leufs frameshift NM_001407677.1:c.5365delC NP_001394606.1:p.Pro1789Leufs frameshift NM_001407678.1:c.5365delC NP_001394607.1:p.Pro1789Leufs frameshift NM_001407679.1:c.5365delC NP_001394608.1:p.Pro1789Leufs frameshift NM_001407680.1:c.5365delC NP_001394609.1:p.Pro1789Leufs frameshift NM_001407681.1:c.5362delC NP_001394610.1:p.Pro1788Leufs frameshift NM_001407682.1:c.5362delC NP_001394611.1:p.Pro1788Leufs frameshift NM_001407683.1:c.5362delC NP_001394612.1:p.Pro1788Leufs frameshift NM_001407684.1:c.5362delC NP_001394613.1:p.Pro1788Leufs frameshift NM_001407685.1:c.5362delC NP_001394614.1:p.Pro1788Leufs frameshift NM_001407686.1:c.5362delC NP_001394615.1:p.Pro1788Leufs frameshift NM_001407687.1:c.5362delC NP_001394616.1:p.Pro1788Leufs frameshift NM_001407688.1:c.5362delC NP_001394617.1:p.Pro1788Leufs frameshift NM_001407689.1:c.5362delC NP_001394618.1:p.Pro1788Leufs frameshift NM_001407690.1:c.5359delC NP_001394619.1:p.Pro1787Leufs frameshift NM_001407691.1:c.5359delC NP_001394620.1:p.Pro1787Leufs frameshift NM_001407692.1:c.5350delC NP_001394621.1:p.Pro1784Leufs frameshift NM_001407694.1:c.5350delC NP_001394623.1:p.Pro1784Leufs frameshift NM_001407695.1:c.5350delC NP_001394624.1:p.Pro1784Leufs frameshift NM_001407696.1:c.5350delC NP_001394625.1:p.Pro1784Leufs frameshift NM_001407697.1:c.5350delC NP_001394626.1:p.Pro1784Leufs frameshift NM_001407698.1:c.5350delC NP_001394627.1:p.Pro1784Leufs frameshift NM_001407724.1:c.5350delC NP_001394653.1:p.Pro1784Leufs frameshift NM_001407725.1:c.5350delC NP_001394654.1:p.Pro1784Leufs frameshift NM_001407726.1:c.5350delC NP_001394655.1:p.Pro1784Leufs frameshift NM_001407727.1:c.5350delC NP_001394656.1:p.Pro1784Leufs frameshift NM_001407728.1:c.5350delC NP_001394657.1:p.Pro1784Leufs frameshift NM_001407729.1:c.5350delC NP_001394658.1:p.Pro1784Leufs frameshift NM_001407730.1:c.5350delC NP_001394659.1:p.Pro1784Leufs frameshift NM_001407731.1:c.5350delC NP_001394660.1:p.Pro1784Leufs frameshift NM_001407732.1:c.5347delC NP_001394661.1:p.Pro1783Leufs frameshift NM_001407733.1:c.5347delC NP_001394662.1:p.Pro1783Leufs frameshift NM_001407734.1:c.5347delC NP_001394663.1:p.Pro1783Leufs frameshift NM_001407735.1:c.5347delC NP_001394664.1:p.Pro1783Leufs frameshift NM_001407736.1:c.5347delC NP_001394665.1:p.Pro1783Leufs frameshift NM_001407737.1:c.5347delC NP_001394666.1:p.Pro1783Leufs frameshift NM_001407738.1:c.5347delC NP_001394667.1:p.Pro1783Leufs frameshift NM_001407739.1:c.5347delC NP_001394668.1:p.Pro1783Leufs frameshift NM_001407740.1:c.5347delC NP_001394669.1:p.Pro1783Leufs frameshift NM_001407741.1:c.5347delC NP_001394670.1:p.Pro1783Leufs frameshift NM_001407742.1:c.5347delC NP_001394671.1:p.Pro1783Leufs frameshift NM_001407743.1:c.5347delC NP_001394672.1:p.Pro1783Leufs frameshift NM_001407744.1:c.5347delC NP_001394673.1:p.Pro1783Leufs frameshift NM_001407745.1:c.5347delC NP_001394674.1:p.Pro1783Leufs frameshift NM_001407746.1:c.5347delC NP_001394675.1:p.Pro1783Leufs frameshift NM_001407747.1:c.5347delC NP_001394676.1:p.Pro1783Leufs frameshift NM_001407748.1:c.5347delC NP_001394677.1:p.Pro1783Leufs frameshift NM_001407749.1:c.5347delC NP_001394678.1:p.Pro1783Leufs frameshift NM_001407750.1:c.5347delC NP_001394679.1:p.Pro1783Leufs frameshift NM_001407751.1:c.5347delC NP_001394680.1:p.Pro1783Leufs frameshift NM_001407752.1:c.5347delC NP_001394681.1:p.Pro1783Leufs frameshift NM_001407838.1:c.5344delC NP_001394767.1:p.Pro1782Leufs frameshift NM_001407839.1:c.5344delC NP_001394768.1:p.Pro1782Leufs frameshift NM_001407841.1:c.5344delC NP_001394770.1:p.Pro1782Leufs frameshift NM_001407842.1:c.5344delC NP_001394771.1:p.Pro1782Leufs frameshift NM_001407843.1:c.5344delC NP_001394772.1:p.Pro1782Leufs frameshift NM_001407844.1:c.5344delC NP_001394773.1:p.Pro1782Leufs frameshift NM_001407845.1:c.5344delC NP_001394774.1:p.Pro1782Leufs frameshift NM_001407846.1:c.5344delC NP_001394775.1:p.Pro1782Leufs frameshift NM_001407847.1:c.5344delC NP_001394776.1:p.Pro1782Leufs frameshift NM_001407848.1:c.5344delC NP_001394777.1:p.Pro1782Leufs frameshift NM_001407849.1:c.5344delC NP_001394778.1:p.Pro1782Leufs frameshift NM_001407850.1:c.5344delC NP_001394779.1:p.Pro1782Leufs frameshift NM_001407851.1:c.5344delC NP_001394780.1:p.Pro1782Leufs frameshift NM_001407852.1:c.5344delC NP_001394781.1:p.Pro1782Leufs frameshift NM_001407853.1:c.5344delC NP_001394782.1:p.Pro1782Leufs frameshift NM_001407854.1:c.*5delC NM_001407858.1:c.*5delC NM_001407859.1:c.*5delC NM_001407860.1:c.*5delC NM_001407861.1:c.*5delC NM_001407862.1:c.5290delC NP_001394791.1:p.Pro1764Leufs frameshift NM_001407863.1:c.5287delC NP_001394792.1:p.Pro1763Leufs frameshift NM_001407874.1:c.5284delC NP_001394803.1:p.Pro1762Leufs frameshift NM_001407875.1:c.5284delC NP_001394804.1:p.Pro1762Leufs frameshift NM_001407879.1:c.5281delC NP_001394808.1:p.Pro1761Leufs frameshift NM_001407881.1:c.5281delC NP_001394810.1:p.Pro1761Leufs frameshift NM_001407882.1:c.5281delC NP_001394811.1:p.Pro1761Leufs frameshift NM_001407884.1:c.5281delC NP_001394813.1:p.Pro1761Leufs frameshift NM_001407885.1:c.5281delC NP_001394814.1:p.Pro1761Leufs frameshift NM_001407886.1:c.5281delC NP_001394815.1:p.Pro1761Leufs frameshift NM_001407887.1:c.5281delC NP_001394816.1:p.Pro1761Leufs frameshift NM_001407889.1:c.5281delC NP_001394818.1:p.Pro1761Leufs frameshift NM_001407894.1:c.5278delC NP_001394823.1:p.Pro1760Leufs frameshift NM_001407895.1:c.5278delC NP_001394824.1:p.Pro1760Leufs frameshift NM_001407896.1:c.5278delC NP_001394825.1:p.Pro1760Leufs frameshift NM_001407897.1:c.5278delC NP_001394826.1:p.Pro1760Leufs frameshift NM_001407898.1:c.5278delC NP_001394827.1:p.Pro1760Leufs frameshift NM_001407899.1:c.5278delC NP_001394828.1:p.Pro1760Leufs frameshift NM_001407900.1:c.5278delC NP_001394829.1:p.Pro1760Leufs frameshift NM_001407902.1:c.5278delC NP_001394831.1:p.Pro1760Leufs frameshift NM_001407904.1:c.5278delC NP_001394833.1:p.Pro1760Leufs frameshift NM_001407906.1:c.5278delC NP_001394835.1:p.Pro1760Leufs frameshift NM_001407907.1:c.5278delC NP_001394836.1:p.Pro1760Leufs frameshift NM_001407908.1:c.5278delC NP_001394837.1:p.Pro1760Leufs frameshift NM_001407909.1:c.5278delC NP_001394838.1:p.Pro1760Leufs frameshift NM_001407910.1:c.5278delC NP_001394839.1:p.Pro1760Leufs frameshift NM_001407915.1:c.5275delC NP_001394844.1:p.Pro1759Leufs frameshift NM_001407916.1:c.5275delC NP_001394845.1:p.Pro1759Leufs frameshift NM_001407917.1:c.5275delC NP_001394846.1:p.Pro1759Leufs frameshift NM_001407918.1:c.5275delC NP_001394847.1:p.Pro1759Leufs frameshift NM_001407919.1:c.5239delC NP_001394848.1:p.Pro1747Leufs frameshift NM_001407920.1:c.5227delC NP_001394849.1:p.Pro1743Leufs frameshift NM_001407921.1:c.5227delC NP_001394850.1:p.Pro1743Leufs frameshift NM_001407922.1:c.5227delC NP_001394851.1:p.Pro1743Leufs frameshift NM_001407923.1:c.5227delC NP_001394852.1:p.Pro1743Leufs frameshift NM_001407924.1:c.5227delC NP_001394853.1:p.Pro1743Leufs frameshift NM_001407925.1:c.5227delC NP_001394854.1:p.Pro1743Leufs frameshift NM_001407926.1:c.5227delC NP_001394855.1:p.Pro1743Leufs frameshift NM_001407927.1:c.5224delC NP_001394856.1:p.Pro1742Leufs frameshift NM_001407928.1:c.5224delC NP_001394857.1:p.Pro1742Leufs frameshift NM_001407929.1:c.5224delC NP_001394858.1:p.Pro1742Leufs frameshift NM_001407930.1:c.5224delC NP_001394859.1:p.Pro1742Leufs frameshift NM_001407931.1:c.5224delC NP_001394860.1:p.Pro1742Leufs frameshift NM_001407932.1:c.5224delC NP_001394861.1:p.Pro1742Leufs frameshift NM_001407933.1:c.5224delC NP_001394862.1:p.Pro1742Leufs frameshift NM_001407934.1:c.5221delC NP_001394863.1:p.Pro1741Leufs frameshift NM_001407935.1:c.5221delC NP_001394864.1:p.Pro1741Leufs frameshift NM_001407936.1:c.5221delC NP_001394865.1:p.Pro1741Leufs frameshift NM_001407937.1:c.*5delC NM_001407938.1:c.*5delC NM_001407939.1:c.*5delC NM_001407940.1:c.*5delC NM_001407941.1:c.*5delC NM_001407942.1:c.*5delC NM_001407943.1:c.*5delC NM_001407944.1:c.*5delC NM_001407945.1:c.*5delC NM_001407946.1:c.5158delC NP_001394875.1:p.Pro1720Leufs frameshift NM_001407947.1:c.5158delC NP_001394876.1:p.Pro1720Leufs frameshift NM_001407948.1:c.5158delC NP_001394877.1:p.Pro1720Leufs frameshift NM_001407949.1:c.5158delC NP_001394878.1:p.Pro1720Leufs frameshift NM_001407950.1:c.5155delC NP_001394879.1:p.Pro1719Leufs frameshift NM_001407951.1:c.5155delC NP_001394880.1:p.Pro1719Leufs frameshift NM_001407952.1:c.5155delC NP_001394881.1:p.Pro1719Leufs frameshift NM_001407953.1:c.5155delC NP_001394882.1:p.Pro1719Leufs frameshift NM_001407954.1:c.5155delC NP_001394883.1:p.Pro1719Leufs frameshift NM_001407955.1:c.5155delC NP_001394884.1:p.Pro1719Leufs frameshift NM_001407956.1:c.5152delC NP_001394885.1:p.Pro1718Leufs frameshift NM_001407957.1:c.5152delC NP_001394886.1:p.Pro1718Leufs frameshift NM_001407958.1:c.5152delC NP_001394887.1:p.Pro1718Leufs frameshift NM_001407959.1:c.5110delC NP_001394888.1:p.Pro1704Leufs frameshift NM_001407960.1:c.5107delC NP_001394889.1:p.Pro1703Leufs frameshift NM_001407962.1:c.5107delC NP_001394891.1:p.Pro1703Leufs frameshift NM_001407963.1:c.5104delC NP_001394892.1:p.Pro1702Leufs frameshift NM_001407964.1:c.5029delC NP_001394893.1:p.Pro1677Leufs frameshift NM_001407965.1:c.4984delC NP_001394894.1:p.Pro1662Leufs frameshift NM_001407966.1:c.4603delC NP_001394895.1:p.Pro1535Leufs frameshift NM_001407967.1:c.4600delC NP_001394896.1:p.Pro1534Leufs frameshift NM_001407968.1:c.2887delC NP_001394897.1:p.Pro963Leufs frameshift NM_001407969.1:c.2884delC NP_001394898.1:p.Pro962Leufs frameshift NM_001407970.1:c.2248delC NP_001394899.1:p.Pro750Leufs frameshift NM_001407971.1:c.2248delC NP_001394900.1:p.Pro750Leufs frameshift NM_001407972.1:c.2245delC NP_001394901.1:p.Pro749Leufs frameshift NM_001407973.1:c.2182delC NP_001394902.1:p.Pro728Leufs frameshift NM_001407974.1:c.2182delC NP_001394903.1:p.Pro728Leufs frameshift NM_001407975.1:c.2182delC NP_001394904.1:p.Pro728Leufs frameshift NM_001407976.1:c.2182delC NP_001394905.1:p.Pro728Leufs frameshift NM_001407977.1:c.2182delC NP_001394906.1:p.Pro728Leufs frameshift NM_001407978.1:c.2182delC NP_001394907.1:p.Pro728Leufs frameshift NM_001407979.1:c.2179delC NP_001394908.1:p.Pro727Leufs frameshift NM_001407980.1:c.2179delC NP_001394909.1:p.Pro727Leufs frameshift NM_001407981.1:c.2179delC NP_001394910.1:p.Pro727Leufs frameshift NM_001407982.1:c.2179delC NP_001394911.1:p.Pro727Leufs frameshift NM_001407983.1:c.2179delC NP_001394912.1:p.Pro727Leufs frameshift NM_001407984.1:c.2179delC NP_001394913.1:p.Pro727Leufs frameshift NM_001407985.1:c.2179delC NP_001394914.1:p.Pro727Leufs frameshift NM_001407986.1:c.2179delC NP_001394915.1:p.Pro727Leufs frameshift NM_001407990.1:c.2179delC NP_001394919.1:p.Pro727Leufs frameshift NM_001407991.1:c.2179delC NP_001394920.1:p.Pro727Leufs frameshift NM_001407992.1:c.2179delC NP_001394921.1:p.Pro727Leufs frameshift NM_001407993.1:c.2179delC NP_001394922.1:p.Pro727Leufs frameshift NM_001408392.1:c.2176delC NP_001395321.1:p.Pro726Leufs frameshift NM_001408396.1:c.2176delC NP_001395325.1:p.Pro726Leufs frameshift NM_001408397.1:c.2176delC NP_001395326.1:p.Pro726Leufs frameshift NM_001408398.1:c.2176delC NP_001395327.1:p.Pro726Leufs frameshift NM_001408399.1:c.2176delC NP_001395328.1:p.Pro726Leufs frameshift NM_001408400.1:c.2176delC NP_001395329.1:p.Pro726Leufs frameshift NM_001408401.1:c.2176delC NP_001395330.1:p.Pro726Leufs frameshift NM_001408402.1:c.2176delC NP_001395331.1:p.Pro726Leufs frameshift NM_001408403.1:c.2176delC NP_001395332.1:p.Pro726Leufs frameshift NM_001408404.1:c.2176delC NP_001395333.1:p.Pro726Leufs frameshift NM_001408406.1:c.2173delC NP_001395335.1:p.Pro725Leufs frameshift NM_001408407.1:c.2173delC NP_001395336.1:p.Pro725Leufs frameshift NM_001408408.1:c.2173delC NP_001395337.1:p.Pro725Leufs frameshift NM_001408409.1:c.2170delC NP_001395338.1:p.Pro724Leufs frameshift NM_001408410.1:c.2107delC NP_001395339.1:p.Pro703Leufs frameshift NM_001408411.1:c.2104delC NP_001395340.1:p.Pro702Leufs frameshift NM_001408412.1:c.2101delC NP_001395341.1:p.Pro701Leufs frameshift NM_001408413.1:c.2101delC NP_001395342.1:p.Pro701Leufs frameshift NM_001408414.1:c.2101delC NP_001395343.1:p.Pro701Leufs frameshift NM_001408415.1:c.2101delC NP_001395344.1:p.Pro701Leufs frameshift NM_001408416.1:c.2101delC NP_001395345.1:p.Pro701Leufs frameshift NM_001408418.1:c.2065delC NP_001395347.1:p.Pro689Leufs frameshift NM_001408419.1:c.2065delC NP_001395348.1:p.Pro689Leufs frameshift NM_001408420.1:c.2065delC NP_001395349.1:p.Pro689Leufs frameshift NM_001408421.1:c.2062delC NP_001395350.1:p.Pro688Leufs frameshift NM_001408422.1:c.2062delC NP_001395351.1:p.Pro688Leufs frameshift NM_001408423.1:c.2062delC NP_001395352.1:p.Pro688Leufs frameshift NM_001408424.1:c.2062delC NP_001395353.1:p.Pro688Leufs frameshift NM_001408425.1:c.2059delC NP_001395354.1:p.Pro687Leufs frameshift NM_001408426.1:c.2059delC NP_001395355.1:p.Pro687Leufs frameshift NM_001408427.1:c.2059delC NP_001395356.1:p.Pro687Leufs frameshift NM_001408428.1:c.2059delC NP_001395357.1:p.Pro687Leufs frameshift NM_001408429.1:c.2059delC NP_001395358.1:p.Pro687Leufs frameshift NM_001408430.1:c.2059delC NP_001395359.1:p.Pro687Leufs frameshift NM_001408431.1:c.2059delC NP_001395360.1:p.Pro687Leufs frameshift NM_001408432.1:c.2056delC NP_001395361.1:p.Pro686Leufs frameshift NM_001408433.1:c.2056delC NP_001395362.1:p.Pro686Leufs frameshift NM_001408434.1:c.2056delC NP_001395363.1:p.Pro686Leufs frameshift NM_001408435.1:c.2056delC NP_001395364.1:p.Pro686Leufs frameshift NM_001408436.1:c.2056delC NP_001395365.1:p.Pro686Leufs frameshift NM_001408437.1:c.2056delC NP_001395366.1:p.Pro686Leufs frameshift NM_001408438.1:c.2056delC NP_001395367.1:p.Pro686Leufs frameshift NM_001408439.1:c.2056delC NP_001395368.1:p.Pro686Leufs frameshift NM_001408440.1:c.2056delC NP_001395369.1:p.Pro686Leufs frameshift NM_001408441.1:c.2056delC NP_001395370.1:p.Pro686Leufs frameshift NM_001408442.1:c.2056delC NP_001395371.1:p.Pro686Leufs frameshift NM_001408443.1:c.2056delC NP_001395372.1:p.Pro686Leufs frameshift NM_001408444.1:c.2056delC NP_001395373.1:p.Pro686Leufs frameshift NM_001408445.1:c.2053delC NP_001395374.1:p.Pro685Leufs frameshift NM_001408446.1:c.2053delC NP_001395375.1:p.Pro685Leufs frameshift NM_001408447.1:c.2053delC NP_001395376.1:p.Pro685Leufs frameshift NM_001408448.1:c.2053delC NP_001395377.1:p.Pro685Leufs frameshift NM_001408450.1:c.2053delC NP_001395379.1:p.Pro685Leufs frameshift NM_001408451.1:c.2047delC NP_001395380.1:p.Pro683Leufs frameshift NM_001408452.1:c.2041delC NP_001395381.1:p.Pro681Leufs frameshift NM_001408453.1:c.2041delC NP_001395382.1:p.Pro681Leufs frameshift NM_001408454.1:c.2041delC NP_001395383.1:p.Pro681Leufs frameshift NM_001408455.1:c.2041delC NP_001395384.1:p.Pro681Leufs frameshift NM_001408456.1:c.2041delC NP_001395385.1:p.Pro681Leufs frameshift NM_001408457.1:c.2041delC NP_001395386.1:p.Pro681Leufs frameshift NM_001408458.1:c.2038delC NP_001395387.1:p.Pro680Leufs frameshift NM_001408459.1:c.2038delC NP_001395388.1:p.Pro680Leufs frameshift NM_001408460.1:c.2038delC NP_001395389.1:p.Pro680Leufs frameshift NM_001408461.1:c.2038delC NP_001395390.1:p.Pro680Leufs frameshift NM_001408462.1:c.2038delC NP_001395391.1:p.Pro680Leufs frameshift NM_001408463.1:c.2038delC NP_001395392.1:p.Pro680Leufs frameshift NM_001408464.1:c.2038delC NP_001395393.1:p.Pro680Leufs frameshift NM_001408465.1:c.2038delC NP_001395394.1:p.Pro680Leufs frameshift NM_001408466.1:c.2038delC NP_001395395.1:p.Pro680Leufs frameshift NM_001408467.1:c.2038delC NP_001395396.1:p.Pro680Leufs frameshift NM_001408468.1:c.2035delC NP_001395397.1:p.Pro679Leufs frameshift NM_001408469.1:c.2035delC NP_001395398.1:p.Pro679Leufs frameshift NM_001408470.1:c.2035delC NP_001395399.1:p.Pro679Leufs frameshift NM_001408472.1:c.*5delC NM_001408473.1:c.*5delC NM_001408474.1:c.1981delC NP_001395403.1:p.Pro661Leufs frameshift NM_001408475.1:c.1978delC NP_001395404.1:p.Pro660Leufs frameshift NM_001408476.1:c.1978delC NP_001395405.1:p.Pro660Leufs frameshift NM_001408478.1:c.1972delC NP_001395407.1:p.Pro658Leufs frameshift NM_001408479.1:c.1972delC NP_001395408.1:p.Pro658Leufs frameshift NM_001408480.1:c.1972delC NP_001395409.1:p.Pro658Leufs frameshift NM_001408481.1:c.1969delC NP_001395410.1:p.Pro657Leufs frameshift NM_001408482.1:c.1969delC NP_001395411.1:p.Pro657Leufs frameshift NM_001408483.1:c.1969delC NP_001395412.1:p.Pro657Leufs frameshift NM_001408484.1:c.1969delC NP_001395413.1:p.Pro657Leufs frameshift NM_001408485.1:c.1969delC NP_001395414.1:p.Pro657Leufs frameshift NM_001408489.1:c.1969delC NP_001395418.1:p.Pro657Leufs frameshift NM_001408490.1:c.1969delC NP_001395419.1:p.Pro657Leufs frameshift NM_001408491.1:c.1969delC NP_001395420.1:p.Pro657Leufs frameshift NM_001408492.1:c.1966delC NP_001395421.1:p.Pro656Leufs frameshift NM_001408493.1:c.1966delC NP_001395422.1:p.Pro656Leufs frameshift NM_001408494.1:c.1942delC NP_001395423.1:p.Pro648Leufs frameshift NM_001408495.1:c.1936delC NP_001395424.1:p.Pro646Leufs frameshift NM_001408496.1:c.1918delC NP_001395425.1:p.Pro640Leufs frameshift NM_001408497.1:c.1918delC NP_001395426.1:p.Pro640Leufs frameshift NM_001408498.1:c.1918delC NP_001395427.1:p.Pro640Leufs frameshift NM_001408499.1:c.1918delC NP_001395428.1:p.Pro640Leufs frameshift NM_001408500.1:c.1918delC NP_001395429.1:p.Pro640Leufs frameshift NM_001408501.1:c.1918delC NP_001395430.1:p.Pro640Leufs frameshift NM_001408502.1:c.1915delC NP_001395431.1:p.Pro639Leufs frameshift NM_001408503.1:c.1915delC NP_001395432.1:p.Pro639Leufs frameshift NM_001408504.1:c.1915delC NP_001395433.1:p.Pro639Leufs frameshift NM_001408505.1:c.1912delC NP_001395434.1:p.Pro638Leufs frameshift NM_001408506.1:c.1855delC NP_001395435.1:p.Pro619Leufs frameshift NM_001408507.1:c.1852delC NP_001395436.1:p.Pro618Leufs frameshift NM_001408508.1:c.1843delC NP_001395437.1:p.Pro615Leufs frameshift NM_001408509.1:c.1840delC NP_001395438.1:p.Pro614Leufs frameshift NM_001408510.1:c.1801delC NP_001395439.1:p.Pro601Leufs frameshift NM_001408511.1:c.1798delC NP_001395440.1:p.Pro600Leufs frameshift NM_001408512.1:c.1678delC NP_001395441.1:p.Pro560Leufs frameshift NM_001408513.1:c.1651delC NP_001395442.1:p.Pro551Leufs frameshift NM_001408514.1:c.1255delC NP_001395443.1:p.Pro419Leufs frameshift NM_007294.3:c.5492delC frameshift NM_007297.4:c.5351del NP_009228.2:p.Pro1784fs frameshift NM_007298.4:c.2179delC NP_009229.2:p.Pro727Leufs frameshift NM_007299.4:c.*6del 3 prime UTR NM_007300.4:c.5555del NP_009231.2:p.Pro1852fs frameshift NM_007304.2:c.2179delC NP_009235.2:p.Pro727Leufs frameshift NR_027676.2:n.5669del non-coding transcript variant NC_000017.11:g.43045779del NC_000017.10:g.41197796del NG_005905.2:g.172206del LRG_292:g.172206del LRG_292t1:c.5491del LRG_292p1:p.Pro1831Leufs U14680.1:n.5611delC - Protein change
- P1852fs, P1784fs, P727fs, P1831fs
- Other names
-
5611delC
- Canonical SPDI
- NC_000017.11:43045777: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 | ||
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13156 | 14987 |
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 | RCV000112680.14 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 23, 2020 | RCV000238684.13 | |
Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496304.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 21, 2016 | RCV002345356.9 |
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: SCV000300269.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Jan 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000296783.3
First in ClinVar: Jul 31, 2016 Last updated: Apr 24, 2020 |
Comment:
This sequence change deletes one nucleotide base causing a frameshift and the creation of a premature translation stop signal 3 amino acid residues later. This … (more)
This sequence change deletes one nucleotide base causing a frameshift and the creation of a premature translation stop signal 3 amino acid residues later. This is expected to result in an absent or disrupted protein product. (less)
|
|
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: SCV000326337.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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Pathogenic
(May 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215126.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447818.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Ovarian neoplasm (present)
Sex: female
|
|
Pathogenic
(Dec 21, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002652707.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.5492delC pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5492, causing … (more)
The c.5492delC pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5492, causing a translational frameshift with a predicted alternate stop codon (p.P1831Lfs*3). This frameshift occurs at the 3' terminus of BRCA1, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 33 amino acids of the protein. This alteration results in loss of very crucial amino acids from codons 1831 to 1855, which are part of the second BRCT functional domain. In addition, this mutation has been reported in numerous high-risk individuals with breast and/or ovarian cancer (Arnold N et al. Hum. Mutat., 1999;14:333-9; Konstantopoulou I et al. Clin. Genet., 2014 Jan;85:36-42; Meindl A et al. Int. J. Cancer, 2002 Feb;97:472-80). Of note, this mutation is also designated as 5611delC in published literature. This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 29, 2002)
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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: SCV000145546.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 3:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
|
|
Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587512.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. | Konstantopoulou I | Clinical genetics | 2014 | PMID: 24010542 |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | Meindl A | International journal of cancer | 2002 | PMID: 11802209 |
A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers. | Arnold N | Human mutation | 1999 | PMID: 10502781 |
Text-mined citations for rs80357582 ...
HelpRecord last updated Nov 25, 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.