ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
Variation ID: 55612 Accession: VCV000055612.12
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43045749 (GRCh38) [ NCBI UCSC ] 17: 41197766 (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 20, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5521del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1841fs frameshift NM_001407571.1:c.5308delA NP_001394500.1:p.Ser1770Valfs frameshift NM_001407581.1:c.5587delA NP_001394510.1:p.Ser1863Valfs frameshift NM_001407582.1:c.5587delA NP_001394511.1:p.Ser1863Valfs frameshift NM_001407583.1:c.5584delA NP_001394512.1:p.Ser1862Valfs frameshift NM_001407585.1:c.5584delA NP_001394514.1:p.Ser1862Valfs frameshift NM_001407587.1:c.5584delA NP_001394516.1:p.Ser1862Valfs frameshift NM_001407590.1:c.5581delA NP_001394519.1:p.Ser1861Valfs frameshift NM_001407591.1:c.5581delA NP_001394520.1:p.Ser1861Valfs frameshift NM_001407593.1:c.5521delA NP_001394522.1:p.Ser1841Valfs frameshift NM_001407594.1:c.5521delA NP_001394523.1:p.Ser1841Valfs frameshift NM_001407596.1:c.5521delA NP_001394525.1:p.Ser1841Valfs frameshift NM_001407597.1:c.5521delA NP_001394526.1:p.Ser1841Valfs frameshift NM_001407598.1:c.5521delA NP_001394527.1:p.Ser1841Valfs frameshift NM_001407602.1:c.5521delA NP_001394531.1:p.Ser1841Valfs frameshift NM_001407603.1:c.5521delA NP_001394532.1:p.Ser1841Valfs frameshift NM_001407605.1:c.5521delA NP_001394534.1:p.Ser1841Valfs frameshift NM_001407610.1:c.5518delA NP_001394539.1:p.Ser1840Valfs frameshift NM_001407611.1:c.5518delA NP_001394540.1:p.Ser1840Valfs frameshift NM_001407612.1:c.5518delA NP_001394541.1:p.Ser1840Valfs frameshift NM_001407613.1:c.5518delA NP_001394542.1:p.Ser1840Valfs frameshift NM_001407614.1:c.5518delA NP_001394543.1:p.Ser1840Valfs frameshift NM_001407615.1:c.5518delA NP_001394544.1:p.Ser1840Valfs frameshift NM_001407616.1:c.5518delA NP_001394545.1:p.Ser1840Valfs frameshift NM_001407617.1:c.5518delA NP_001394546.1:p.Ser1840Valfs frameshift NM_001407618.1:c.5518delA NP_001394547.1:p.Ser1840Valfs frameshift NM_001407619.1:c.5518delA NP_001394548.1:p.Ser1840Valfs frameshift NM_001407620.1:c.5518delA NP_001394549.1:p.Ser1840Valfs frameshift NM_001407621.1:c.5518delA NP_001394550.1:p.Ser1840Valfs frameshift NM_001407622.1:c.5518delA NP_001394551.1:p.Ser1840Valfs frameshift NM_001407623.1:c.5518delA NP_001394552.1:p.Ser1840Valfs frameshift NM_001407624.1:c.5518delA NP_001394553.1:p.Ser1840Valfs frameshift NM_001407625.1:c.5518delA NP_001394554.1:p.Ser1840Valfs frameshift NM_001407626.1:c.5518delA NP_001394555.1:p.Ser1840Valfs frameshift NM_001407627.1:c.5515delA NP_001394556.1:p.Ser1839Valfs frameshift NM_001407628.1:c.5515delA NP_001394557.1:p.Ser1839Valfs frameshift NM_001407629.1:c.5515delA NP_001394558.1:p.Ser1839Valfs frameshift NM_001407630.1:c.5515delA NP_001394559.1:p.Ser1839Valfs frameshift NM_001407631.1:c.5515delA NP_001394560.1:p.Ser1839Valfs frameshift NM_001407632.1:c.5515delA NP_001394561.1:p.Ser1839Valfs frameshift NM_001407633.1:c.5515delA NP_001394562.1:p.Ser1839Valfs frameshift NM_001407634.1:c.5515delA NP_001394563.1:p.Ser1839Valfs frameshift NM_001407635.1:c.5515delA NP_001394564.1:p.Ser1839Valfs frameshift NM_001407636.1:c.5515delA NP_001394565.1:p.Ser1839Valfs frameshift NM_001407637.1:c.5515delA NP_001394566.1:p.Ser1839Valfs frameshift NM_001407638.1:c.5515delA NP_001394567.1:p.Ser1839Valfs frameshift NM_001407639.1:c.5515delA NP_001394568.1:p.Ser1839Valfs frameshift NM_001407640.1:c.5515delA NP_001394569.1:p.Ser1839Valfs frameshift NM_001407641.1:c.5515delA NP_001394570.1:p.Ser1839Valfs frameshift NM_001407642.1:c.5515delA NP_001394571.1:p.Ser1839Valfs frameshift NM_001407644.1:c.5512delA NP_001394573.1:p.Ser1838Valfs frameshift NM_001407645.1:c.5512delA NP_001394574.1:p.Ser1838Valfs frameshift NM_001407646.1:c.5509delA NP_001394575.1:p.Ser1837Valfs frameshift NM_001407647.1:c.5506delA NP_001394576.1:p.Ser1836Valfs frameshift NM_001407648.1:c.5464delA NP_001394577.1:p.Ser1822Valfs frameshift NM_001407649.1:c.5461delA NP_001394578.1:p.Ser1821Valfs frameshift NM_001407652.1:c.5443delA NP_001394581.1:p.Ser1815Valfs frameshift NM_001407653.1:c.5443delA NP_001394582.1:p.Ser1815Valfs frameshift NM_001407654.1:c.5443delA NP_001394583.1:p.Ser1815Valfs frameshift NM_001407655.1:c.5443delA NP_001394584.1:p.Ser1815Valfs frameshift NM_001407656.1:c.5440delA NP_001394585.1:p.Ser1814Valfs frameshift NM_001407657.1:c.5440delA NP_001394586.1:p.Ser1814Valfs frameshift NM_001407658.1:c.5440delA NP_001394587.1:p.Ser1814Valfs frameshift NM_001407659.1:c.5437delA NP_001394588.1:p.Ser1813Valfs frameshift NM_001407660.1:c.5437delA NP_001394589.1:p.Ser1813Valfs frameshift NM_001407661.1:c.5437delA NP_001394590.1:p.Ser1813Valfs frameshift NM_001407662.1:c.5437delA NP_001394591.1:p.Ser1813Valfs frameshift NM_001407663.1:c.5437delA NP_001394592.1:p.Ser1813Valfs frameshift NM_001407664.1:c.5398delA NP_001394593.1:p.Ser1800Valfs frameshift NM_001407665.1:c.5398delA NP_001394594.1:p.Ser1800Valfs frameshift NM_001407666.1:c.5398delA NP_001394595.1:p.Ser1800Valfs frameshift NM_001407667.1:c.5398delA NP_001394596.1:p.Ser1800Valfs frameshift NM_001407668.1:c.5398delA NP_001394597.1:p.Ser1800Valfs frameshift NM_001407669.1:c.5398delA NP_001394598.1:p.Ser1800Valfs frameshift NM_001407670.1:c.5395delA NP_001394599.1:p.Ser1799Valfs frameshift NM_001407671.1:c.5395delA NP_001394600.1:p.Ser1799Valfs frameshift NM_001407672.1:c.5395delA NP_001394601.1:p.Ser1799Valfs frameshift NM_001407673.1:c.5395delA NP_001394602.1:p.Ser1799Valfs frameshift NM_001407674.1:c.5395delA NP_001394603.1:p.Ser1799Valfs frameshift NM_001407675.1:c.5395delA NP_001394604.1:p.Ser1799Valfs frameshift NM_001407676.1:c.5395delA NP_001394605.1:p.Ser1799Valfs frameshift NM_001407677.1:c.5395delA NP_001394606.1:p.Ser1799Valfs frameshift NM_001407678.1:c.5395delA NP_001394607.1:p.Ser1799Valfs frameshift NM_001407679.1:c.5395delA NP_001394608.1:p.Ser1799Valfs frameshift NM_001407680.1:c.5395delA NP_001394609.1:p.Ser1799Valfs frameshift NM_001407681.1:c.5392delA NP_001394610.1:p.Ser1798Valfs frameshift NM_001407682.1:c.5392delA NP_001394611.1:p.Ser1798Valfs frameshift NM_001407683.1:c.5392delA NP_001394612.1:p.Ser1798Valfs frameshift NM_001407684.1:c.5392delA NP_001394613.1:p.Ser1798Valfs frameshift NM_001407685.1:c.5392delA NP_001394614.1:p.Ser1798Valfs frameshift NM_001407686.1:c.5392delA NP_001394615.1:p.Ser1798Valfs frameshift NM_001407687.1:c.5392delA NP_001394616.1:p.Ser1798Valfs frameshift NM_001407688.1:c.5392delA NP_001394617.1:p.Ser1798Valfs frameshift NM_001407689.1:c.5392delA NP_001394618.1:p.Ser1798Valfs frameshift NM_001407690.1:c.5389delA NP_001394619.1:p.Ser1797Valfs frameshift NM_001407691.1:c.5389delA NP_001394620.1:p.Ser1797Valfs frameshift NM_001407692.1:c.5380delA NP_001394621.1:p.Ser1794Valfs frameshift NM_001407694.1:c.5380delA NP_001394623.1:p.Ser1794Valfs frameshift NM_001407695.1:c.5380delA NP_001394624.1:p.Ser1794Valfs frameshift NM_001407696.1:c.5380delA NP_001394625.1:p.Ser1794Valfs frameshift NM_001407697.1:c.5380delA NP_001394626.1:p.Ser1794Valfs frameshift NM_001407698.1:c.5380delA NP_001394627.1:p.Ser1794Valfs frameshift NM_001407724.1:c.5380delA NP_001394653.1:p.Ser1794Valfs frameshift NM_001407725.1:c.5380delA NP_001394654.1:p.Ser1794Valfs frameshift NM_001407726.1:c.5380delA NP_001394655.1:p.Ser1794Valfs frameshift NM_001407727.1:c.5380delA NP_001394656.1:p.Ser1794Valfs frameshift NM_001407728.1:c.5380delA NP_001394657.1:p.Ser1794Valfs frameshift NM_001407729.1:c.5380delA NP_001394658.1:p.Ser1794Valfs frameshift NM_001407730.1:c.5380delA NP_001394659.1:p.Ser1794Valfs frameshift NM_001407731.1:c.5380delA NP_001394660.1:p.Ser1794Valfs frameshift NM_001407732.1:c.5377delA NP_001394661.1:p.Ser1793Valfs frameshift NM_001407733.1:c.5377delA NP_001394662.1:p.Ser1793Valfs frameshift NM_001407734.1:c.5377delA NP_001394663.1:p.Ser1793Valfs frameshift NM_001407735.1:c.5377delA NP_001394664.1:p.Ser1793Valfs frameshift NM_001407736.1:c.5377delA NP_001394665.1:p.Ser1793Valfs frameshift NM_001407737.1:c.5377delA NP_001394666.1:p.Ser1793Valfs frameshift NM_001407738.1:c.5377delA NP_001394667.1:p.Ser1793Valfs frameshift NM_001407739.1:c.5377delA NP_001394668.1:p.Ser1793Valfs frameshift NM_001407740.1:c.5377delA NP_001394669.1:p.Ser1793Valfs frameshift NM_001407741.1:c.5377delA NP_001394670.1:p.Ser1793Valfs frameshift NM_001407742.1:c.5377delA NP_001394671.1:p.Ser1793Valfs frameshift NM_001407743.1:c.5377delA NP_001394672.1:p.Ser1793Valfs frameshift NM_001407744.1:c.5377delA NP_001394673.1:p.Ser1793Valfs frameshift NM_001407745.1:c.5377delA NP_001394674.1:p.Ser1793Valfs frameshift NM_001407746.1:c.5377delA NP_001394675.1:p.Ser1793Valfs frameshift NM_001407747.1:c.5377delA NP_001394676.1:p.Ser1793Valfs frameshift NM_001407748.1:c.5377delA NP_001394677.1:p.Ser1793Valfs frameshift NM_001407749.1:c.5377delA NP_001394678.1:p.Ser1793Valfs frameshift NM_001407750.1:c.5377delA NP_001394679.1:p.Ser1793Valfs frameshift NM_001407751.1:c.5377delA NP_001394680.1:p.Ser1793Valfs frameshift NM_001407752.1:c.5377delA NP_001394681.1:p.Ser1793Valfs frameshift NM_001407838.1:c.5374delA NP_001394767.1:p.Ser1792Valfs frameshift NM_001407839.1:c.5374delA NP_001394768.1:p.Ser1792Valfs frameshift NM_001407841.1:c.5374delA NP_001394770.1:p.Ser1792Valfs frameshift NM_001407842.1:c.5374delA NP_001394771.1:p.Ser1792Valfs frameshift NM_001407843.1:c.5374delA NP_001394772.1:p.Ser1792Valfs frameshift NM_001407844.1:c.5374delA NP_001394773.1:p.Ser1792Valfs frameshift NM_001407845.1:c.5374delA NP_001394774.1:p.Ser1792Valfs frameshift NM_001407846.1:c.5374delA NP_001394775.1:p.Ser1792Valfs frameshift NM_001407847.1:c.5374delA NP_001394776.1:p.Ser1792Valfs frameshift NM_001407848.1:c.5374delA NP_001394777.1:p.Ser1792Valfs frameshift NM_001407849.1:c.5374delA NP_001394778.1:p.Ser1792Valfs frameshift NM_001407850.1:c.5374delA NP_001394779.1:p.Ser1792Valfs frameshift NM_001407851.1:c.5374delA NP_001394780.1:p.Ser1792Valfs frameshift NM_001407852.1:c.5374delA NP_001394781.1:p.Ser1792Valfs frameshift NM_001407853.1:c.5374delA NP_001394782.1:p.Ser1792Valfs frameshift NM_001407854.1:c.*35delA NM_001407858.1:c.*35delA NM_001407859.1:c.*35delA NM_001407860.1:c.*35delA NM_001407861.1:c.*35delA NM_001407862.1:c.5320delA NP_001394791.1:p.Ser1774Valfs frameshift NM_001407863.1:c.5317delA NP_001394792.1:p.Ser1773Valfs frameshift NM_001407874.1:c.5314delA NP_001394803.1:p.Ser1772Valfs frameshift NM_001407875.1:c.5314delA NP_001394804.1:p.Ser1772Valfs frameshift NM_001407879.1:c.5311delA NP_001394808.1:p.Ser1771Valfs frameshift NM_001407881.1:c.5311delA NP_001394810.1:p.Ser1771Valfs frameshift NM_001407882.1:c.5311delA NP_001394811.1:p.Ser1771Valfs frameshift NM_001407884.1:c.5311delA NP_001394813.1:p.Ser1771Valfs frameshift NM_001407885.1:c.5311delA NP_001394814.1:p.Ser1771Valfs frameshift NM_001407886.1:c.5311delA NP_001394815.1:p.Ser1771Valfs frameshift NM_001407887.1:c.5311delA NP_001394816.1:p.Ser1771Valfs frameshift NM_001407889.1:c.5311delA NP_001394818.1:p.Ser1771Valfs frameshift NM_001407894.1:c.5308delA NP_001394823.1:p.Ser1770Valfs frameshift NM_001407895.1:c.5308delA NP_001394824.1:p.Ser1770Valfs frameshift NM_001407896.1:c.5308delA NP_001394825.1:p.Ser1770Valfs frameshift NM_001407897.1:c.5308delA NP_001394826.1:p.Ser1770Valfs frameshift NM_001407898.1:c.5308delA NP_001394827.1:p.Ser1770Valfs frameshift NM_001407899.1:c.5308delA NP_001394828.1:p.Ser1770Valfs frameshift NM_001407900.1:c.5308delA NP_001394829.1:p.Ser1770Valfs frameshift NM_001407902.1:c.5308delA NP_001394831.1:p.Ser1770Valfs frameshift NM_001407904.1:c.5308delA NP_001394833.1:p.Ser1770Valfs frameshift NM_001407906.1:c.5308delA NP_001394835.1:p.Ser1770Valfs frameshift NM_001407907.1:c.5308delA NP_001394836.1:p.Ser1770Valfs frameshift NM_001407908.1:c.5308delA NP_001394837.1:p.Ser1770Valfs frameshift NM_001407909.1:c.5308delA NP_001394838.1:p.Ser1770Valfs frameshift NM_001407910.1:c.5308delA NP_001394839.1:p.Ser1770Valfs frameshift NM_001407915.1:c.5305delA NP_001394844.1:p.Ser1769Valfs frameshift NM_001407916.1:c.5305delA NP_001394845.1:p.Ser1769Valfs frameshift NM_001407917.1:c.5305delA NP_001394846.1:p.Ser1769Valfs frameshift NM_001407918.1:c.5305delA NP_001394847.1:p.Ser1769Valfs frameshift NM_001407919.1:c.5269delA NP_001394848.1:p.Ser1757Valfs frameshift NM_001407920.1:c.5257delA NP_001394849.1:p.Ser1753Valfs frameshift NM_001407921.1:c.5257delA NP_001394850.1:p.Ser1753Valfs frameshift NM_001407922.1:c.5257delA NP_001394851.1:p.Ser1753Valfs frameshift NM_001407923.1:c.5257delA NP_001394852.1:p.Ser1753Valfs frameshift NM_001407924.1:c.5257delA NP_001394853.1:p.Ser1753Valfs frameshift NM_001407925.1:c.5257delA NP_001394854.1:p.Ser1753Valfs frameshift NM_001407926.1:c.5257delA NP_001394855.1:p.Ser1753Valfs frameshift NM_001407927.1:c.5254delA NP_001394856.1:p.Ser1752Valfs frameshift NM_001407928.1:c.5254delA NP_001394857.1:p.Ser1752Valfs frameshift NM_001407929.1:c.5254delA NP_001394858.1:p.Ser1752Valfs frameshift NM_001407930.1:c.5254delA NP_001394859.1:p.Ser1752Valfs frameshift NM_001407931.1:c.5254delA NP_001394860.1:p.Ser1752Valfs frameshift NM_001407932.1:c.5254delA NP_001394861.1:p.Ser1752Valfs frameshift NM_001407933.1:c.5254delA NP_001394862.1:p.Ser1752Valfs frameshift NM_001407934.1:c.5251delA NP_001394863.1:p.Ser1751Valfs frameshift NM_001407935.1:c.5251delA NP_001394864.1:p.Ser1751Valfs frameshift NM_001407936.1:c.5251delA NP_001394865.1:p.Ser1751Valfs frameshift NM_001407937.1:c.*35delA NM_001407938.1:c.*35delA NM_001407939.1:c.*35delA NM_001407940.1:c.*35delA NM_001407941.1:c.*35delA NM_001407942.1:c.*35delA NM_001407943.1:c.*35delA NM_001407944.1:c.*35delA NM_001407945.1:c.*35delA NM_001407946.1:c.5188delA NP_001394875.1:p.Ser1730Valfs frameshift NM_001407947.1:c.5188delA NP_001394876.1:p.Ser1730Valfs frameshift NM_001407948.1:c.5188delA NP_001394877.1:p.Ser1730Valfs frameshift NM_001407949.1:c.5188delA NP_001394878.1:p.Ser1730Valfs frameshift NM_001407950.1:c.5185delA NP_001394879.1:p.Ser1729Valfs frameshift NM_001407951.1:c.5185delA NP_001394880.1:p.Ser1729Valfs frameshift NM_001407952.1:c.5185delA NP_001394881.1:p.Ser1729Valfs frameshift NM_001407953.1:c.5185delA NP_001394882.1:p.Ser1729Valfs frameshift NM_001407954.1:c.5185delA NP_001394883.1:p.Ser1729Valfs frameshift NM_001407955.1:c.5185delA NP_001394884.1:p.Ser1729Valfs frameshift NM_001407956.1:c.5182delA NP_001394885.1:p.Ser1728Valfs frameshift NM_001407957.1:c.5182delA NP_001394886.1:p.Ser1728Valfs frameshift NM_001407958.1:c.5182delA NP_001394887.1:p.Ser1728Valfs frameshift NM_001407959.1:c.5140delA NP_001394888.1:p.Ser1714Valfs frameshift NM_001407960.1:c.5137delA NP_001394889.1:p.Ser1713Valfs frameshift NM_001407962.1:c.5137delA NP_001394891.1:p.Ser1713Valfs frameshift NM_001407963.1:c.5134delA NP_001394892.1:p.Ser1712Valfs frameshift NM_001407964.1:c.5059delA NP_001394893.1:p.Ser1687Valfs frameshift NM_001407965.1:c.5014delA NP_001394894.1:p.Ser1672Valfs frameshift NM_001407966.1:c.4633delA NP_001394895.1:p.Ser1545Valfs frameshift NM_001407967.1:c.4630delA NP_001394896.1:p.Ser1544Valfs frameshift NM_001407968.1:c.2917delA NP_001394897.1:p.Ser973Valfs frameshift NM_001407969.1:c.2914delA NP_001394898.1:p.Ser972Valfs frameshift NM_001407970.1:c.2278delA NP_001394899.1:p.Ser760Valfs frameshift NM_001407971.1:c.2278delA NP_001394900.1:p.Ser760Valfs frameshift NM_001407972.1:c.2275delA NP_001394901.1:p.Ser759Valfs frameshift NM_001407973.1:c.2212delA NP_001394902.1:p.Ser738Valfs frameshift NM_001407974.1:c.2212delA NP_001394903.1:p.Ser738Valfs frameshift NM_001407975.1:c.2212delA NP_001394904.1:p.Ser738Valfs frameshift NM_001407976.1:c.2212delA NP_001394905.1:p.Ser738Valfs frameshift NM_001407977.1:c.2212delA NP_001394906.1:p.Ser738Valfs frameshift NM_001407978.1:c.2212delA NP_001394907.1:p.Ser738Valfs frameshift NM_001407979.1:c.2209delA NP_001394908.1:p.Ser737Valfs frameshift NM_001407980.1:c.2209delA NP_001394909.1:p.Ser737Valfs frameshift NM_001407981.1:c.2209delA NP_001394910.1:p.Ser737Valfs frameshift NM_001407982.1:c.2209delA NP_001394911.1:p.Ser737Valfs frameshift NM_001407983.1:c.2209delA NP_001394912.1:p.Ser737Valfs frameshift NM_001407984.1:c.2209delA NP_001394913.1:p.Ser737Valfs frameshift NM_001407985.1:c.2209delA NP_001394914.1:p.Ser737Valfs frameshift NM_001407986.1:c.2209delA NP_001394915.1:p.Ser737Valfs frameshift NM_001407990.1:c.2209delA NP_001394919.1:p.Ser737Valfs frameshift NM_001407991.1:c.2209delA NP_001394920.1:p.Ser737Valfs frameshift NM_001407992.1:c.2209delA NP_001394921.1:p.Ser737Valfs frameshift NM_001407993.1:c.2209delA NP_001394922.1:p.Ser737Valfs frameshift NM_001408392.1:c.2206delA NP_001395321.1:p.Ser736Valfs frameshift NM_001408396.1:c.2206delA NP_001395325.1:p.Ser736Valfs frameshift NM_001408397.1:c.2206delA NP_001395326.1:p.Ser736Valfs frameshift NM_001408398.1:c.2206delA NP_001395327.1:p.Ser736Valfs frameshift NM_001408399.1:c.2206delA NP_001395328.1:p.Ser736Valfs frameshift NM_001408400.1:c.2206delA NP_001395329.1:p.Ser736Valfs frameshift NM_001408401.1:c.2206delA NP_001395330.1:p.Ser736Valfs frameshift NM_001408402.1:c.2206delA NP_001395331.1:p.Ser736Valfs frameshift NM_001408403.1:c.2206delA NP_001395332.1:p.Ser736Valfs frameshift NM_001408404.1:c.2206delA NP_001395333.1:p.Ser736Valfs frameshift NM_001408406.1:c.2203delA NP_001395335.1:p.Ser735Valfs frameshift NM_001408407.1:c.2203delA NP_001395336.1:p.Ser735Valfs frameshift NM_001408408.1:c.2203delA NP_001395337.1:p.Ser735Valfs frameshift NM_001408409.1:c.2200delA NP_001395338.1:p.Ser734Valfs frameshift NM_001408410.1:c.2137delA NP_001395339.1:p.Ser713Valfs frameshift NM_001408411.1:c.2134delA NP_001395340.1:p.Ser712Valfs frameshift NM_001408412.1:c.2131delA NP_001395341.1:p.Ser711Valfs frameshift NM_001408413.1:c.2131delA NP_001395342.1:p.Ser711Valfs frameshift NM_001408414.1:c.2131delA NP_001395343.1:p.Ser711Valfs frameshift NM_001408415.1:c.2131delA NP_001395344.1:p.Ser711Valfs frameshift NM_001408416.1:c.2131delA NP_001395345.1:p.Ser711Valfs frameshift NM_001408418.1:c.2095delA NP_001395347.1:p.Ser699Valfs frameshift NM_001408419.1:c.2095delA NP_001395348.1:p.Ser699Valfs frameshift NM_001408420.1:c.2095delA NP_001395349.1:p.Ser699Valfs frameshift NM_001408421.1:c.2092delA NP_001395350.1:p.Ser698Valfs frameshift NM_001408422.1:c.2092delA NP_001395351.1:p.Ser698Valfs frameshift NM_001408423.1:c.2092delA NP_001395352.1:p.Ser698Valfs frameshift NM_001408424.1:c.2092delA NP_001395353.1:p.Ser698Valfs frameshift NM_001408425.1:c.2089delA NP_001395354.1:p.Ser697Valfs frameshift NM_001408426.1:c.2089delA NP_001395355.1:p.Ser697Valfs frameshift NM_001408427.1:c.2089delA NP_001395356.1:p.Ser697Valfs frameshift NM_001408428.1:c.2089delA NP_001395357.1:p.Ser697Valfs frameshift NM_001408429.1:c.2089delA NP_001395358.1:p.Ser697Valfs frameshift NM_001408430.1:c.2089delA NP_001395359.1:p.Ser697Valfs frameshift NM_001408431.1:c.2089delA NP_001395360.1:p.Ser697Valfs frameshift NM_001408432.1:c.2086delA NP_001395361.1:p.Ser696Valfs frameshift NM_001408433.1:c.2086delA NP_001395362.1:p.Ser696Valfs frameshift NM_001408434.1:c.2086delA NP_001395363.1:p.Ser696Valfs frameshift NM_001408435.1:c.2086delA NP_001395364.1:p.Ser696Valfs frameshift NM_001408436.1:c.2086delA NP_001395365.1:p.Ser696Valfs frameshift NM_001408437.1:c.2086delA NP_001395366.1:p.Ser696Valfs frameshift NM_001408438.1:c.2086delA NP_001395367.1:p.Ser696Valfs frameshift NM_001408439.1:c.2086delA NP_001395368.1:p.Ser696Valfs frameshift NM_001408440.1:c.2086delA NP_001395369.1:p.Ser696Valfs frameshift NM_001408441.1:c.2086delA NP_001395370.1:p.Ser696Valfs frameshift NM_001408442.1:c.2086delA NP_001395371.1:p.Ser696Valfs frameshift NM_001408443.1:c.2086delA NP_001395372.1:p.Ser696Valfs frameshift NM_001408444.1:c.2086delA NP_001395373.1:p.Ser696Valfs frameshift NM_001408445.1:c.2083delA NP_001395374.1:p.Ser695Valfs frameshift NM_001408446.1:c.2083delA NP_001395375.1:p.Ser695Valfs frameshift NM_001408447.1:c.2083delA NP_001395376.1:p.Ser695Valfs frameshift NM_001408448.1:c.2083delA NP_001395377.1:p.Ser695Valfs frameshift NM_001408450.1:c.2083delA NP_001395379.1:p.Ser695Valfs frameshift NM_001408451.1:c.2077delA NP_001395380.1:p.Ser693Valfs frameshift NM_001408452.1:c.2071delA NP_001395381.1:p.Ser691Valfs frameshift NM_001408453.1:c.2071delA NP_001395382.1:p.Ser691Valfs frameshift NM_001408454.1:c.2071delA NP_001395383.1:p.Ser691Valfs frameshift NM_001408455.1:c.2071delA NP_001395384.1:p.Ser691Valfs frameshift NM_001408456.1:c.2071delA NP_001395385.1:p.Ser691Valfs frameshift NM_001408457.1:c.2071delA NP_001395386.1:p.Ser691Valfs frameshift NM_001408458.1:c.2068delA NP_001395387.1:p.Ser690Valfs frameshift NM_001408459.1:c.2068delA NP_001395388.1:p.Ser690Valfs frameshift NM_001408460.1:c.2068delA NP_001395389.1:p.Ser690Valfs frameshift NM_001408461.1:c.2068delA NP_001395390.1:p.Ser690Valfs frameshift NM_001408462.1:c.2068delA NP_001395391.1:p.Ser690Valfs frameshift NM_001408463.1:c.2068delA NP_001395392.1:p.Ser690Valfs frameshift NM_001408464.1:c.2068delA NP_001395393.1:p.Ser690Valfs frameshift NM_001408465.1:c.2068delA NP_001395394.1:p.Ser690Valfs frameshift NM_001408466.1:c.2068delA NP_001395395.1:p.Ser690Valfs frameshift NM_001408467.1:c.2068delA NP_001395396.1:p.Ser690Valfs frameshift NM_001408468.1:c.2065delA NP_001395397.1:p.Ser689Valfs frameshift NM_001408469.1:c.2065delA NP_001395398.1:p.Ser689Valfs frameshift NM_001408470.1:c.2065delA NP_001395399.1:p.Ser689Valfs frameshift NM_001408472.1:c.*35delA NM_001408473.1:c.*35delA NM_001408474.1:c.2011delA NP_001395403.1:p.Ser671Valfs frameshift NM_001408475.1:c.2008delA NP_001395404.1:p.Ser670Valfs frameshift NM_001408476.1:c.2008delA NP_001395405.1:p.Ser670Valfs frameshift NM_001408478.1:c.2002delA NP_001395407.1:p.Ser668Valfs frameshift NM_001408479.1:c.2002delA NP_001395408.1:p.Ser668Valfs frameshift NM_001408480.1:c.2002delA NP_001395409.1:p.Ser668Valfs frameshift NM_001408481.1:c.1999delA NP_001395410.1:p.Ser667Valfs frameshift NM_001408482.1:c.1999delA NP_001395411.1:p.Ser667Valfs frameshift NM_001408483.1:c.1999delA NP_001395412.1:p.Ser667Valfs frameshift NM_001408484.1:c.1999delA NP_001395413.1:p.Ser667Valfs frameshift NM_001408485.1:c.1999delA NP_001395414.1:p.Ser667Valfs frameshift NM_001408489.1:c.1999delA NP_001395418.1:p.Ser667Valfs frameshift NM_001408490.1:c.1999delA NP_001395419.1:p.Ser667Valfs frameshift NM_001408491.1:c.1999delA NP_001395420.1:p.Ser667Valfs frameshift NM_001408492.1:c.1996delA NP_001395421.1:p.Ser666Valfs frameshift NM_001408493.1:c.1996delA NP_001395422.1:p.Ser666Valfs frameshift NM_001408494.1:c.1972delA NP_001395423.1:p.Ser658Valfs frameshift NM_001408495.1:c.1966delA NP_001395424.1:p.Ser656Valfs frameshift NM_001408496.1:c.1948delA NP_001395425.1:p.Ser650Valfs frameshift NM_001408497.1:c.1948delA NP_001395426.1:p.Ser650Valfs frameshift NM_001408498.1:c.1948delA NP_001395427.1:p.Ser650Valfs frameshift NM_001408499.1:c.1948delA NP_001395428.1:p.Ser650Valfs frameshift NM_001408500.1:c.1948delA NP_001395429.1:p.Ser650Valfs frameshift NM_001408501.1:c.1948delA NP_001395430.1:p.Ser650Valfs frameshift NM_001408502.1:c.1945delA NP_001395431.1:p.Ser649Valfs frameshift NM_001408503.1:c.1945delA NP_001395432.1:p.Ser649Valfs frameshift NM_001408504.1:c.1945delA NP_001395433.1:p.Ser649Valfs frameshift NM_001408505.1:c.1942delA NP_001395434.1:p.Ser648Valfs frameshift NM_001408506.1:c.1885delA NP_001395435.1:p.Ser629Valfs frameshift NM_001408507.1:c.1882delA NP_001395436.1:p.Ser628Valfs frameshift NM_001408508.1:c.1873delA NP_001395437.1:p.Ser625Valfs frameshift NM_001408509.1:c.1870delA NP_001395438.1:p.Ser624Valfs frameshift NM_001408510.1:c.1831delA NP_001395439.1:p.Ser611Valfs frameshift NM_001408511.1:c.1828delA NP_001395440.1:p.Ser610Valfs frameshift NM_001408512.1:c.1708delA NP_001395441.1:p.Ser570Valfs frameshift NM_001408513.1:c.1681delA NP_001395442.1:p.Ser561Valfs frameshift NM_001408514.1:c.1285delA NP_001395443.1:p.Ser429Valfs frameshift NM_007297.4:c.5380del NP_009228.2:p.Ser1794fs frameshift NM_007298.4:c.2209delA NP_009229.2:p.Ser737Valfs frameshift NM_007299.4:c.*35del 3 prime UTR NM_007300.4:c.5584del NP_009231.2:p.Ser1862fs frameshift NM_007304.2:c.2209delA NP_009235.2:p.Ser737Valfs frameshift NR_027676.2:n.5698del non-coding transcript variant NC_000017.11:g.43045749del NC_000017.10:g.41197766del NG_005905.2:g.172235del LRG_292:g.172235del LRG_292t1:c.5521del LRG_292p1:p.Ser1841Valfs U14680.1:n.5640delA - Protein change
- S1794fs, S1841fs, S737fs, S1862fs
- Other names
- 5640delA
- Canonical SPDI
- NC_000017.11:43045748:T:
-
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.
-
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 |
12795 | 14565 |
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 (1) |
criteria provided, single submitter
|
Feb 13, 2018 | RCV000049034.17 | |
Pathogenic (3) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112693.13 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jun 29, 2022 | RCV000564883.10 |
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: SCV000300276.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Jun 29, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000661000.4
First in ClinVar: Jan 01, 2018 Last updated: Nov 29, 2022 |
Comment:
The c.5521delA pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5521, causing … (more)
The c.5521delA pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5521, causing a translational frameshift with a predicted alternate stop codon (p.S1841Vfs*2). This alteration occurs at the 3' terminus of theBRCA1 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 22 amino acids of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This alteration was detected in a cohort of women diagnosed with breast cancer (Malone KE, JAMA 1998 Mar;279(12):922-9). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
|
|
Pathogenic
(Feb 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000077047.9
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This truncation is expected to partially remove the C-terminal BRCT domain of BRCA1 protein, which … (more)
For these reasons, this variant has been classified as Pathogenic. This truncation is expected to partially remove the C-terminal BRCT domain of BRCA1 protein, which is important for DNA repair activity (PMID: 14576433, 15133503). A different deleterious variant p.Tyr1853* located downstream of this variant has been shown to disrupt BRCA1 protein function (PMID: 8942979, 20681793, 10811118, 11256609, 17308087), suggesting that although this particular variant may not result in nonsense mediated decay, it is expected to affect BRCA1 protein function. This variant has been reported in individuals affected with breast cancer (PMID: 9544766, 16835750, 21614564, 27393621). This variant is also known as 5640delA in the literature. ClinVar contains an entry for this variant (Variation ID: 55612). This variant is not present in population databases (ExAC no frequency). This sequence change deletes 1 nucleotide in exon 23 of the BRCA1 mRNA (c.5521delA), causing a frameshift at codon 1841. This creates a premature translational stop signal in the last exon of the BRCA1 mRNA (p.Ser1841Valfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated protein by eliminating 22 amino acid residues from the full-length BRCA1 protein. (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: SCV000326351.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Apr 06, 1999)
|
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: SCV000145565.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 394
|
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 |
---|---|---|---|---|
Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer. | Zhang J | Breast cancer research and treatment | 2016 | PMID: 27393621 |
Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. | Zhang J | Breast cancer research and treatment | 2012 | PMID: 21614564 |
Impact of RING and BRCT domain mutations on BRCA1 protein stability, localization and recruitment to DNA damage. | Nelson AC | Radiation research | 2010 | PMID: 20681793 |
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | Carvalho MA | Cancer research | 2007 | PMID: 17308087 |
The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer. | Song CG | Journal of cancer research and clinical oncology | 2006 | PMID: 16835750 |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. | Williams RS | Nature structural & molecular biology | 2004 | PMID: 15133503 |
The BRCT domain is a phospho-protein binding domain. | Yu X | Science (New York, N.Y.) | 2003 | PMID: 14576433 |
BRCA1 can stimulate gene transcription by a unique mechanism. | Nadeau G | EMBO reports | 2000 | PMID: 11256609 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history. | Malone KE | JAMA | 1998 | PMID: 9544766 |
Evidence for a transcriptional activation function of BRCA1 C-terminal region. | Monteiro AN | Proceedings of the National Academy of Sciences of the United States of America | 1996 | PMID: 8942979 |
click to load more click to collapse |
Text-mined citations for rs80357721 ...
HelpRecord last updated Apr 20, 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.