Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Dec 2017 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.5075_5078del (p.Asp1692fs)
Variation ID: 55384 Accession: VCV000055384.3
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 17q21.31 17: 43063948-43063951 (GRCh38) [ NCBI UCSC ] 17: 41215965-41215968 (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 Jan 25, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5075_5078del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1692fs frameshift NM_001407571.1:c.4862_4865delATGC NP_001394500.1:p.Asp1621Valfs frameshift NM_001407581.1:c.5141_5144delATGC NP_001394510.1:p.Asp1714Valfs frameshift NM_001407582.1:c.5141_5144delATGC NP_001394511.1:p.Asp1714Valfs frameshift NM_001407583.1:c.5138_5141delATGC NP_001394512.1:p.Asp1713Valfs frameshift NM_001407585.1:c.5138_5141delATGC NP_001394514.1:p.Asp1713Valfs frameshift NM_001407587.1:c.5138_5141delATGC NP_001394516.1:p.Asp1713Valfs frameshift NM_001407590.1:c.5135_5138delATGC NP_001394519.1:p.Asp1712Valfs frameshift NM_001407591.1:c.5135_5138delATGC NP_001394520.1:p.Asp1712Valfs frameshift NM_001407593.1:c.5075_5078delATGC NP_001394522.1:p.Asp1692Valfs frameshift NM_001407594.1:c.5075_5078delATGC NP_001394523.1:p.Asp1692Valfs frameshift NM_001407596.1:c.5075_5078delATGC NP_001394525.1:p.Asp1692Valfs frameshift NM_001407597.1:c.5075_5078delATGC NP_001394526.1:p.Asp1692Valfs frameshift NM_001407598.1:c.5075_5078delATGC NP_001394527.1:p.Asp1692Valfs frameshift NM_001407602.1:c.5075_5078delATGC NP_001394531.1:p.Asp1692Valfs frameshift NM_001407603.1:c.5075_5078delATGC NP_001394532.1:p.Asp1692Valfs frameshift NM_001407605.1:c.5075_5078delATGC NP_001394534.1:p.Asp1692Valfs frameshift NM_001407610.1:c.5072_5075delATGC NP_001394539.1:p.Asp1691Valfs frameshift NM_001407611.1:c.5072_5075delATGC NP_001394540.1:p.Asp1691Valfs frameshift NM_001407612.1:c.5072_5075delATGC NP_001394541.1:p.Asp1691Valfs frameshift NM_001407613.1:c.5072_5075delATGC NP_001394542.1:p.Asp1691Valfs frameshift NM_001407614.1:c.5072_5075delATGC NP_001394543.1:p.Asp1691Valfs frameshift NM_001407615.1:c.5072_5075delATGC NP_001394544.1:p.Asp1691Valfs frameshift NM_001407616.1:c.5072_5075delATGC NP_001394545.1:p.Asp1691Valfs frameshift NM_001407617.1:c.5072_5075delATGC NP_001394546.1:p.Asp1691Valfs frameshift NM_001407618.1:c.5072_5075delATGC NP_001394547.1:p.Asp1691Valfs frameshift NM_001407619.1:c.5072_5075delATGC NP_001394548.1:p.Asp1691Valfs frameshift NM_001407620.1:c.5072_5075delATGC NP_001394549.1:p.Asp1691Valfs frameshift NM_001407621.1:c.5072_5075delATGC NP_001394550.1:p.Asp1691Valfs frameshift NM_001407622.1:c.5072_5075delATGC NP_001394551.1:p.Asp1691Valfs frameshift NM_001407623.1:c.5072_5075delATGC NP_001394552.1:p.Asp1691Valfs frameshift NM_001407624.1:c.5072_5075delATGC NP_001394553.1:p.Asp1691Valfs frameshift NM_001407625.1:c.5072_5075delATGC NP_001394554.1:p.Asp1691Valfs frameshift NM_001407626.1:c.5072_5075delATGC NP_001394555.1:p.Asp1691Valfs frameshift NM_001407627.1:c.5069_5072delATGC NP_001394556.1:p.Asp1690Valfs frameshift NM_001407628.1:c.5069_5072delATGC NP_001394557.1:p.Asp1690Valfs frameshift NM_001407629.1:c.5069_5072delATGC NP_001394558.1:p.Asp1690Valfs frameshift NM_001407630.1:c.5069_5072delATGC NP_001394559.1:p.Asp1690Valfs frameshift NM_001407631.1:c.5069_5072delATGC NP_001394560.1:p.Asp1690Valfs frameshift NM_001407632.1:c.5069_5072delATGC NP_001394561.1:p.Asp1690Valfs frameshift NM_001407633.1:c.5069_5072delATGC NP_001394562.1:p.Asp1690Valfs frameshift NM_001407634.1:c.5069_5072delATGC NP_001394563.1:p.Asp1690Valfs frameshift NM_001407635.1:c.5069_5072delATGC NP_001394564.1:p.Asp1690Valfs frameshift NM_001407636.1:c.5069_5072delATGC NP_001394565.1:p.Asp1690Valfs frameshift NM_001407637.1:c.5069_5072delATGC NP_001394566.1:p.Asp1690Valfs frameshift NM_001407638.1:c.5069_5072delATGC NP_001394567.1:p.Asp1690Valfs frameshift NM_001407639.1:c.5069_5072delATGC NP_001394568.1:p.Asp1690Valfs frameshift NM_001407640.1:c.5069_5072delATGC NP_001394569.1:p.Asp1690Valfs frameshift NM_001407641.1:c.5069_5072delATGC NP_001394570.1:p.Asp1690Valfs frameshift NM_001407642.1:c.5069_5072delATGC NP_001394571.1:p.Asp1690Valfs frameshift NM_001407644.1:c.5066_5069delATGC NP_001394573.1:p.Asp1689Valfs frameshift NM_001407645.1:c.5066_5069delATGC NP_001394574.1:p.Asp1689Valfs frameshift NM_001407646.1:c.5063_5066delATGC NP_001394575.1:p.Asp1688Valfs frameshift NM_001407647.1:c.5060_5063delATGC NP_001394576.1:p.Asp1687Valfs frameshift NM_001407648.1:c.5018_5021delATGC NP_001394577.1:p.Asp1673Valfs frameshift NM_001407649.1:c.5015_5018delATGC NP_001394578.1:p.Asp1672Valfs frameshift NM_001407653.1:c.4997_5000delATGC NP_001394582.1:p.Asp1666Valfs frameshift NM_001407654.1:c.4997_5000delATGC NP_001394583.1:p.Asp1666Valfs frameshift NM_001407655.1:c.4997_5000delATGC NP_001394584.1:p.Asp1666Valfs frameshift NM_001407656.1:c.4994_4997delATGC NP_001394585.1:p.Asp1665Valfs frameshift NM_001407657.1:c.4994_4997delATGC NP_001394586.1:p.Asp1665Valfs frameshift NM_001407658.1:c.4994_4997delATGC NP_001394587.1:p.Asp1665Valfs frameshift NM_001407659.1:c.4991_4994delATGC NP_001394588.1:p.Asp1664Valfs frameshift NM_001407660.1:c.4991_4994delATGC NP_001394589.1:p.Asp1664Valfs frameshift NM_001407661.1:c.4991_4994delATGC NP_001394590.1:p.Asp1664Valfs frameshift NM_001407662.1:c.4991_4994delATGC NP_001394591.1:p.Asp1664Valfs frameshift NM_001407663.1:c.4991_4994delATGC NP_001394592.1:p.Asp1664Valfs frameshift NM_001407664.1:c.4952_4955delATGC NP_001394593.1:p.Asp1651Valfs frameshift NM_001407665.1:c.4952_4955delATGC NP_001394594.1:p.Asp1651Valfs frameshift NM_001407666.1:c.4952_4955delATGC NP_001394595.1:p.Asp1651Valfs frameshift NM_001407667.1:c.4952_4955delATGC NP_001394596.1:p.Asp1651Valfs frameshift NM_001407668.1:c.4952_4955delATGC NP_001394597.1:p.Asp1651Valfs frameshift NM_001407669.1:c.4952_4955delATGC NP_001394598.1:p.Asp1651Valfs frameshift NM_001407670.1:c.4949_4952delATGC NP_001394599.1:p.Asp1650Valfs frameshift NM_001407671.1:c.4949_4952delATGC NP_001394600.1:p.Asp1650Valfs frameshift NM_001407672.1:c.4949_4952delATGC NP_001394601.1:p.Asp1650Valfs frameshift NM_001407673.1:c.4949_4952delATGC NP_001394602.1:p.Asp1650Valfs frameshift NM_001407674.1:c.4949_4952delATGC NP_001394603.1:p.Asp1650Valfs frameshift NM_001407675.1:c.4949_4952delATGC NP_001394604.1:p.Asp1650Valfs frameshift NM_001407676.1:c.4949_4952delATGC NP_001394605.1:p.Asp1650Valfs frameshift NM_001407677.1:c.4949_4952delATGC NP_001394606.1:p.Asp1650Valfs frameshift NM_001407678.1:c.4949_4952delATGC NP_001394607.1:p.Asp1650Valfs frameshift NM_001407679.1:c.4949_4952delATGC NP_001394608.1:p.Asp1650Valfs frameshift NM_001407680.1:c.4949_4952delATGC NP_001394609.1:p.Asp1650Valfs frameshift NM_001407681.1:c.4946_4949delATGC NP_001394610.1:p.Asp1649Valfs frameshift NM_001407682.1:c.4946_4949delATGC NP_001394611.1:p.Asp1649Valfs frameshift NM_001407683.1:c.4946_4949delATGC NP_001394612.1:p.Asp1649Valfs frameshift NM_001407684.1:c.5075_5078delATGC NP_001394613.1:p.Asp1692Valfs frameshift NM_001407685.1:c.4946_4949delATGC NP_001394614.1:p.Asp1649Valfs frameshift NM_001407686.1:c.4946_4949delATGC NP_001394615.1:p.Asp1649Valfs frameshift NM_001407687.1:c.4946_4949delATGC NP_001394616.1:p.Asp1649Valfs frameshift NM_001407688.1:c.4946_4949delATGC NP_001394617.1:p.Asp1649Valfs frameshift NM_001407689.1:c.4946_4949delATGC NP_001394618.1:p.Asp1649Valfs frameshift NM_001407690.1:c.4943_4946delATGC NP_001394619.1:p.Asp1648Valfs frameshift NM_001407691.1:c.4943_4946delATGC NP_001394620.1:p.Asp1648Valfs frameshift NM_001407692.1:c.4934_4937delATGC NP_001394621.1:p.Asp1645Valfs frameshift NM_001407694.1:c.4934_4937delATGC NP_001394623.1:p.Asp1645Valfs frameshift NM_001407695.1:c.4934_4937delATGC NP_001394624.1:p.Asp1645Valfs frameshift NM_001407696.1:c.4934_4937delATGC NP_001394625.1:p.Asp1645Valfs frameshift NM_001407697.1:c.4934_4937delATGC NP_001394626.1:p.Asp1645Valfs frameshift NM_001407698.1:c.4934_4937delATGC NP_001394627.1:p.Asp1645Valfs frameshift NM_001407724.1:c.4934_4937delATGC NP_001394653.1:p.Asp1645Valfs frameshift NM_001407725.1:c.4934_4937delATGC NP_001394654.1:p.Asp1645Valfs frameshift NM_001407726.1:c.4934_4937delATGC NP_001394655.1:p.Asp1645Valfs frameshift NM_001407727.1:c.4934_4937delATGC NP_001394656.1:p.Asp1645Valfs frameshift NM_001407728.1:c.4934_4937delATGC NP_001394657.1:p.Asp1645Valfs frameshift NM_001407729.1:c.4934_4937delATGC NP_001394658.1:p.Asp1645Valfs frameshift NM_001407730.1:c.4934_4937delATGC NP_001394659.1:p.Asp1645Valfs frameshift NM_001407731.1:c.4934_4937delATGC NP_001394660.1:p.Asp1645Valfs frameshift NM_001407732.1:c.4931_4934delATGC NP_001394661.1:p.Asp1644Valfs frameshift NM_001407733.1:c.4931_4934delATGC NP_001394662.1:p.Asp1644Valfs frameshift NM_001407734.1:c.4931_4934delATGC NP_001394663.1:p.Asp1644Valfs frameshift NM_001407735.1:c.4931_4934delATGC NP_001394664.1:p.Asp1644Valfs frameshift NM_001407736.1:c.4931_4934delATGC NP_001394665.1:p.Asp1644Valfs frameshift NM_001407737.1:c.4931_4934delATGC NP_001394666.1:p.Asp1644Valfs frameshift NM_001407738.1:c.4931_4934delATGC NP_001394667.1:p.Asp1644Valfs frameshift NM_001407739.1:c.4931_4934delATGC NP_001394668.1:p.Asp1644Valfs frameshift NM_001407740.1:c.4931_4934delATGC NP_001394669.1:p.Asp1644Valfs frameshift NM_001407741.1:c.4931_4934delATGC NP_001394670.1:p.Asp1644Valfs frameshift NM_001407742.1:c.4931_4934delATGC NP_001394671.1:p.Asp1644Valfs frameshift NM_001407743.1:c.4931_4934delATGC NP_001394672.1:p.Asp1644Valfs frameshift NM_001407744.1:c.4931_4934delATGC NP_001394673.1:p.Asp1644Valfs frameshift NM_001407745.1:c.4931_4934delATGC NP_001394674.1:p.Asp1644Valfs frameshift NM_001407746.1:c.4931_4934delATGC NP_001394675.1:p.Asp1644Valfs frameshift NM_001407747.1:c.4931_4934delATGC NP_001394676.1:p.Asp1644Valfs frameshift NM_001407748.1:c.4931_4934delATGC NP_001394677.1:p.Asp1644Valfs frameshift NM_001407749.1:c.4931_4934delATGC NP_001394678.1:p.Asp1644Valfs frameshift NM_001407750.1:c.4931_4934delATGC NP_001394679.1:p.Asp1644Valfs frameshift NM_001407751.1:c.4931_4934delATGC NP_001394680.1:p.Asp1644Valfs frameshift NM_001407752.1:c.4931_4934delATGC NP_001394681.1:p.Asp1644Valfs frameshift NM_001407838.1:c.4928_4931delATGC NP_001394767.1:p.Asp1643Valfs frameshift NM_001407839.1:c.4928_4931delATGC NP_001394768.1:p.Asp1643Valfs frameshift NM_001407841.1:c.4928_4931delATGC NP_001394770.1:p.Asp1643Valfs frameshift NM_001407842.1:c.4928_4931delATGC NP_001394771.1:p.Asp1643Valfs frameshift NM_001407843.1:c.4928_4931delATGC NP_001394772.1:p.Asp1643Valfs frameshift NM_001407844.1:c.4928_4931delATGC NP_001394773.1:p.Asp1643Valfs frameshift NM_001407845.1:c.4928_4931delATGC NP_001394774.1:p.Asp1643Valfs frameshift NM_001407846.1:c.4928_4931delATGC NP_001394775.1:p.Asp1643Valfs frameshift NM_001407847.1:c.4928_4931delATGC NP_001394776.1:p.Asp1643Valfs frameshift NM_001407848.1:c.4928_4931delATGC NP_001394777.1:p.Asp1643Valfs frameshift NM_001407849.1:c.4928_4931delATGC NP_001394778.1:p.Asp1643Valfs frameshift NM_001407850.1:c.4928_4931delATGC NP_001394779.1:p.Asp1643Valfs frameshift NM_001407851.1:c.4928_4931delATGC NP_001394780.1:p.Asp1643Valfs frameshift NM_001407852.1:c.4928_4931delATGC NP_001394781.1:p.Asp1643Valfs frameshift NM_001407853.1:c.4928_4931delATGC NP_001394782.1:p.Asp1643Valfs frameshift NM_001407854.1:c.5075_5078delATGC NP_001394783.1:p.Asp1692Valfs frameshift NM_001407858.1:c.5072_5075delATGC NP_001394787.1:p.Asp1691Valfs frameshift NM_001407859.1:c.5072_5075delATGC NP_001394788.1:p.Asp1691Valfs frameshift NM_001407860.1:c.5072_5075delATGC NP_001394789.1:p.Asp1691Valfs frameshift NM_001407861.1:c.5069_5072delATGC NP_001394790.1:p.Asp1690Valfs frameshift NM_001407862.1:c.4874_4877delATGC NP_001394791.1:p.Asp1625Valfs frameshift NM_001407874.1:c.4868_4871delATGC NP_001394803.1:p.Asp1623Valfs frameshift NM_001407875.1:c.4868_4871delATGC NP_001394804.1:p.Asp1623Valfs frameshift NM_001407879.1:c.4865_4868delATGC NP_001394808.1:p.Asp1622Valfs frameshift NM_001407881.1:c.4865_4868delATGC NP_001394810.1:p.Asp1622Valfs frameshift NM_001407882.1:c.4865_4868delATGC NP_001394811.1:p.Asp1622Valfs frameshift NM_001407884.1:c.4865_4868delATGC NP_001394813.1:p.Asp1622Valfs frameshift NM_001407885.1:c.4865_4868delATGC NP_001394814.1:p.Asp1622Valfs frameshift NM_001407886.1:c.4865_4868delATGC NP_001394815.1:p.Asp1622Valfs frameshift NM_001407887.1:c.4865_4868delATGC NP_001394816.1:p.Asp1622Valfs frameshift NM_001407889.1:c.4865_4868delATGC NP_001394818.1:p.Asp1622Valfs frameshift NM_001407894.1:c.4862_4865delATGC NP_001394823.1:p.Asp1621Valfs frameshift NM_001407895.1:c.4862_4865delATGC NP_001394824.1:p.Asp1621Valfs frameshift NM_001407896.1:c.4862_4865delATGC NP_001394825.1:p.Asp1621Valfs frameshift NM_001407897.1:c.4862_4865delATGC NP_001394826.1:p.Asp1621Valfs frameshift NM_001407898.1:c.4862_4865delATGC NP_001394827.1:p.Asp1621Valfs frameshift NM_001407899.1:c.4862_4865delATGC NP_001394828.1:p.Asp1621Valfs frameshift NM_001407900.1:c.4862_4865delATGC NP_001394829.1:p.Asp1621Valfs frameshift NM_001407902.1:c.4862_4865delATGC NP_001394831.1:p.Asp1621Valfs frameshift NM_001407904.1:c.4862_4865delATGC NP_001394833.1:p.Asp1621Valfs frameshift NM_001407906.1:c.4862_4865delATGC NP_001394835.1:p.Asp1621Valfs frameshift NM_001407907.1:c.4862_4865delATGC NP_001394836.1:p.Asp1621Valfs frameshift NM_001407908.1:c.4862_4865delATGC NP_001394837.1:p.Asp1621Valfs frameshift NM_001407909.1:c.4862_4865delATGC NP_001394838.1:p.Asp1621Valfs frameshift NM_001407910.1:c.4862_4865delATGC NP_001394839.1:p.Asp1621Valfs frameshift NM_001407915.1:c.4859_4862delATGC NP_001394844.1:p.Asp1620Valfs frameshift NM_001407916.1:c.4859_4862delATGC NP_001394845.1:p.Asp1620Valfs frameshift NM_001407917.1:c.4859_4862delATGC NP_001394846.1:p.Asp1620Valfs frameshift NM_001407918.1:c.4859_4862delATGC NP_001394847.1:p.Asp1620Valfs frameshift NM_001407919.1:c.4952_4955delATGC NP_001394848.1:p.Asp1651Valfs frameshift NM_001407920.1:c.4811_4814delATGC NP_001394849.1:p.Asp1604Valfs frameshift NM_001407921.1:c.4811_4814delATGC NP_001394850.1:p.Asp1604Valfs frameshift NM_001407922.1:c.4811_4814delATGC NP_001394851.1:p.Asp1604Valfs frameshift NM_001407923.1:c.4811_4814delATGC NP_001394852.1:p.Asp1604Valfs frameshift NM_001407924.1:c.4811_4814delATGC NP_001394853.1:p.Asp1604Valfs frameshift NM_001407925.1:c.4811_4814delATGC NP_001394854.1:p.Asp1604Valfs frameshift NM_001407926.1:c.4811_4814delATGC NP_001394855.1:p.Asp1604Valfs frameshift NM_001407927.1:c.4808_4811delATGC NP_001394856.1:p.Asp1603Valfs frameshift NM_001407928.1:c.4808_4811delATGC NP_001394857.1:p.Asp1603Valfs frameshift NM_001407929.1:c.4808_4811delATGC NP_001394858.1:p.Asp1603Valfs frameshift NM_001407930.1:c.4808_4811delATGC NP_001394859.1:p.Asp1603Valfs frameshift NM_001407931.1:c.4808_4811delATGC NP_001394860.1:p.Asp1603Valfs frameshift NM_001407932.1:c.4808_4811delATGC NP_001394861.1:p.Asp1603Valfs frameshift NM_001407933.1:c.4808_4811delATGC NP_001394862.1:p.Asp1603Valfs frameshift NM_001407934.1:c.4805_4808delATGC NP_001394863.1:p.Asp1602Valfs frameshift NM_001407935.1:c.4805_4808delATGC NP_001394864.1:p.Asp1602Valfs frameshift NM_001407936.1:c.4805_4808delATGC NP_001394865.1:p.Asp1602Valfs frameshift NM_001407937.1:c.4952_4955delATGC NP_001394866.1:p.Asp1651Valfs frameshift NM_001407938.1:c.4952_4955delATGC NP_001394867.1:p.Asp1651Valfs frameshift NM_001407939.1:c.4949_4952delATGC NP_001394868.1:p.Asp1650Valfs frameshift NM_001407940.1:c.4949_4952delATGC NP_001394869.1:p.Asp1650Valfs frameshift NM_001407941.1:c.4946_4949delATGC NP_001394870.1:p.Asp1649Valfs frameshift NM_001407942.1:c.4934_4937delATGC NP_001394871.1:p.Asp1645Valfs frameshift NM_001407943.1:c.4931_4934delATGC NP_001394872.1:p.Asp1644Valfs frameshift NM_001407944.1:c.4931_4934delATGC NP_001394873.1:p.Asp1644Valfs frameshift NM_001407945.1:c.4931_4934delATGC NP_001394874.1:p.Asp1644Valfs frameshift NM_001407946.1:c.4742_4745delATGC NP_001394875.1:p.Asp1581Valfs frameshift NM_001407947.1:c.4742_4745delATGC NP_001394876.1:p.Asp1581Valfs frameshift NM_001407948.1:c.4742_4745delATGC NP_001394877.1:p.Asp1581Valfs frameshift NM_001407949.1:c.4742_4745delATGC NP_001394878.1:p.Asp1581Valfs frameshift NM_001407950.1:c.4739_4742delATGC NP_001394879.1:p.Asp1580Valfs frameshift NM_001407951.1:c.4739_4742delATGC NP_001394880.1:p.Asp1580Valfs frameshift NM_001407952.1:c.4739_4742delATGC NP_001394881.1:p.Asp1580Valfs frameshift NM_001407953.1:c.4739_4742delATGC NP_001394882.1:p.Asp1580Valfs frameshift NM_001407954.1:c.4739_4742delATGC NP_001394883.1:p.Asp1580Valfs frameshift NM_001407955.1:c.4739_4742delATGC NP_001394884.1:p.Asp1580Valfs frameshift NM_001407956.1:c.4736_4739delATGC NP_001394885.1:p.Asp1579Valfs frameshift NM_001407957.1:c.4736_4739delATGC NP_001394886.1:p.Asp1579Valfs frameshift NM_001407958.1:c.4736_4739delATGC NP_001394887.1:p.Asp1579Valfs frameshift NM_001407959.1:c.4694_4697delATGC NP_001394888.1:p.Asp1565Valfs frameshift NM_001407960.1:c.4691_4694delATGC NP_001394889.1:p.Asp1564Valfs frameshift NM_001407962.1:c.4691_4694delATGC NP_001394891.1:p.Asp1564Valfs frameshift NM_001407963.1:c.4688_4691delATGC NP_001394892.1:p.Asp1563Valfs frameshift NM_001407964.1:c.4613_4616delATGC NP_001394893.1:p.Asp1538Valfs frameshift NM_001407965.1:c.4568_4571delATGC NP_001394894.1:p.Asp1523Valfs frameshift NM_001407966.1:c.4187_4190delATGC NP_001394895.1:p.Asp1396Valfs frameshift NM_001407967.1:c.4184_4187delATGC NP_001394896.1:p.Asp1395Valfs frameshift NM_001407968.1:c.2471_2474delATGC NP_001394897.1:p.Asp824Valfs frameshift NM_001407969.1:c.2468_2471delATGC NP_001394898.1:p.Asp823Valfs frameshift NM_001407970.1:c.1832_1835delATGC NP_001394899.1:p.Asp611Valfs frameshift NM_001407971.1:c.1832_1835delATGC NP_001394900.1:p.Asp611Valfs frameshift NM_001407972.1:c.1829_1832delATGC NP_001394901.1:p.Asp610Valfs frameshift NM_001407973.1:c.1766_1769delATGC NP_001394902.1:p.Asp589Valfs frameshift NM_001407974.1:c.1766_1769delATGC NP_001394903.1:p.Asp589Valfs frameshift NM_001407975.1:c.1766_1769delATGC NP_001394904.1:p.Asp589Valfs frameshift NM_001407976.1:c.1766_1769delATGC NP_001394905.1:p.Asp589Valfs frameshift NM_001407977.1:c.1766_1769delATGC NP_001394906.1:p.Asp589Valfs frameshift NM_001407978.1:c.1766_1769delATGC NP_001394907.1:p.Asp589Valfs frameshift NM_001407979.1:c.1763_1766delATGC NP_001394908.1:p.Asp588Valfs frameshift NM_001407980.1:c.1763_1766delATGC NP_001394909.1:p.Asp588Valfs frameshift NM_001407981.1:c.1763_1766delATGC NP_001394910.1:p.Asp588Valfs frameshift NM_001407982.1:c.1763_1766delATGC NP_001394911.1:p.Asp588Valfs frameshift NM_001407983.1:c.1763_1766delATGC NP_001394912.1:p.Asp588Valfs frameshift NM_001407984.1:c.1763_1766delATGC NP_001394913.1:p.Asp588Valfs frameshift NM_001407985.1:c.1763_1766delATGC NP_001394914.1:p.Asp588Valfs frameshift NM_001407986.1:c.1763_1766delATGC NP_001394915.1:p.Asp588Valfs frameshift NM_001407990.1:c.1763_1766delATGC NP_001394919.1:p.Asp588Valfs frameshift NM_001407991.1:c.1763_1766delATGC NP_001394920.1:p.Asp588Valfs frameshift NM_001407992.1:c.1763_1766delATGC NP_001394921.1:p.Asp588Valfs frameshift NM_001407993.1:c.1763_1766delATGC NP_001394922.1:p.Asp588Valfs frameshift NM_001408392.1:c.1760_1763delATGC NP_001395321.1:p.Asp587Valfs frameshift NM_001408396.1:c.1760_1763delATGC NP_001395325.1:p.Asp587Valfs frameshift NM_001408397.1:c.1760_1763delATGC NP_001395326.1:p.Asp587Valfs frameshift NM_001408398.1:c.1760_1763delATGC NP_001395327.1:p.Asp587Valfs frameshift NM_001408399.1:c.1760_1763delATGC NP_001395328.1:p.Asp587Valfs frameshift NM_001408400.1:c.1760_1763delATGC NP_001395329.1:p.Asp587Valfs frameshift NM_001408401.1:c.1760_1763delATGC NP_001395330.1:p.Asp587Valfs frameshift NM_001408402.1:c.1760_1763delATGC NP_001395331.1:p.Asp587Valfs frameshift NM_001408403.1:c.1760_1763delATGC NP_001395332.1:p.Asp587Valfs frameshift NM_001408404.1:c.1760_1763delATGC NP_001395333.1:p.Asp587Valfs frameshift NM_001408406.1:c.1757_1760delATGC NP_001395335.1:p.Asp586Valfs frameshift NM_001408407.1:c.1757_1760delATGC NP_001395336.1:p.Asp586Valfs frameshift NM_001408408.1:c.1757_1760delATGC NP_001395337.1:p.Asp586Valfs frameshift NM_001408409.1:c.1754_1757delATGC NP_001395338.1:p.Asp585Valfs frameshift NM_001408410.1:c.1691_1694delATGC NP_001395339.1:p.Asp564Valfs frameshift NM_001408411.1:c.1688_1691delATGC NP_001395340.1:p.Asp563Valfs frameshift NM_001408412.1:c.1685_1688delATGC NP_001395341.1:p.Asp562Valfs frameshift NM_001408413.1:c.1685_1688delATGC NP_001395342.1:p.Asp562Valfs frameshift NM_001408414.1:c.1685_1688delATGC NP_001395343.1:p.Asp562Valfs frameshift NM_001408415.1:c.1685_1688delATGC NP_001395344.1:p.Asp562Valfs frameshift NM_001408416.1:c.1685_1688delATGC NP_001395345.1:p.Asp562Valfs frameshift NM_001408418.1:c.1649_1652delATGC NP_001395347.1:p.Asp550Valfs frameshift NM_001408419.1:c.1649_1652delATGC NP_001395348.1:p.Asp550Valfs frameshift NM_001408420.1:c.1649_1652delATGC NP_001395349.1:p.Asp550Valfs frameshift NM_001408421.1:c.1646_1649delATGC NP_001395350.1:p.Asp549Valfs frameshift NM_001408422.1:c.1646_1649delATGC NP_001395351.1:p.Asp549Valfs frameshift NM_001408423.1:c.1646_1649delATGC NP_001395352.1:p.Asp549Valfs frameshift NM_001408424.1:c.1646_1649delATGC NP_001395353.1:p.Asp549Valfs frameshift NM_001408425.1:c.1643_1646delATGC NP_001395354.1:p.Asp548Valfs frameshift NM_001408426.1:c.1643_1646delATGC NP_001395355.1:p.Asp548Valfs frameshift NM_001408427.1:c.1643_1646delATGC NP_001395356.1:p.Asp548Valfs frameshift NM_001408428.1:c.1643_1646delATGC NP_001395357.1:p.Asp548Valfs frameshift NM_001408429.1:c.1643_1646delATGC NP_001395358.1:p.Asp548Valfs frameshift NM_001408430.1:c.1643_1646delATGC NP_001395359.1:p.Asp548Valfs frameshift NM_001408431.1:c.1643_1646delATGC NP_001395360.1:p.Asp548Valfs frameshift NM_001408432.1:c.1640_1643delATGC NP_001395361.1:p.Asp547Valfs frameshift NM_001408433.1:c.1640_1643delATGC NP_001395362.1:p.Asp547Valfs frameshift NM_001408434.1:c.1640_1643delATGC NP_001395363.1:p.Asp547Valfs frameshift NM_001408435.1:c.1640_1643delATGC NP_001395364.1:p.Asp547Valfs frameshift NM_001408436.1:c.1640_1643delATGC NP_001395365.1:p.Asp547Valfs frameshift NM_001408437.1:c.1640_1643delATGC NP_001395366.1:p.Asp547Valfs frameshift NM_001408438.1:c.1640_1643delATGC NP_001395367.1:p.Asp547Valfs frameshift NM_001408439.1:c.1640_1643delATGC NP_001395368.1:p.Asp547Valfs frameshift NM_001408440.1:c.1640_1643delATGC NP_001395369.1:p.Asp547Valfs frameshift NM_001408441.1:c.1640_1643delATGC NP_001395370.1:p.Asp547Valfs frameshift NM_001408442.1:c.1640_1643delATGC NP_001395371.1:p.Asp547Valfs frameshift NM_001408443.1:c.1640_1643delATGC NP_001395372.1:p.Asp547Valfs frameshift NM_001408444.1:c.1640_1643delATGC NP_001395373.1:p.Asp547Valfs frameshift NM_001408445.1:c.1637_1640delATGC NP_001395374.1:p.Asp546Valfs frameshift NM_001408446.1:c.1637_1640delATGC NP_001395375.1:p.Asp546Valfs frameshift NM_001408447.1:c.1637_1640delATGC NP_001395376.1:p.Asp546Valfs frameshift NM_001408448.1:c.1637_1640delATGC NP_001395377.1:p.Asp546Valfs frameshift NM_001408450.1:c.1637_1640delATGC NP_001395379.1:p.Asp546Valfs frameshift NM_001408451.1:c.1631_1634delATGC NP_001395380.1:p.Asp544Valfs frameshift NM_001408452.1:c.1625_1628delATGC NP_001395381.1:p.Asp542Valfs frameshift NM_001408453.1:c.1625_1628delATGC NP_001395382.1:p.Asp542Valfs frameshift NM_001408454.1:c.1625_1628delATGC NP_001395383.1:p.Asp542Valfs frameshift NM_001408455.1:c.1625_1628delATGC NP_001395384.1:p.Asp542Valfs frameshift NM_001408456.1:c.1625_1628delATGC NP_001395385.1:p.Asp542Valfs frameshift NM_001408457.1:c.1625_1628delATGC NP_001395386.1:p.Asp542Valfs frameshift NM_001408458.1:c.1622_1625delATGC NP_001395387.1:p.Asp541Valfs frameshift NM_001408459.1:c.1622_1625delATGC NP_001395388.1:p.Asp541Valfs frameshift NM_001408460.1:c.1622_1625delATGC NP_001395389.1:p.Asp541Valfs frameshift NM_001408461.1:c.1622_1625delATGC NP_001395390.1:p.Asp541Valfs frameshift NM_001408462.1:c.1622_1625delATGC NP_001395391.1:p.Asp541Valfs frameshift NM_001408463.1:c.1622_1625delATGC NP_001395392.1:p.Asp541Valfs frameshift NM_001408464.1:c.1622_1625delATGC NP_001395393.1:p.Asp541Valfs frameshift NM_001408465.1:c.1622_1625delATGC NP_001395394.1:p.Asp541Valfs frameshift NM_001408466.1:c.1622_1625delATGC NP_001395395.1:p.Asp541Valfs frameshift NM_001408467.1:c.1622_1625delATGC NP_001395396.1:p.Asp541Valfs frameshift NM_001408468.1:c.1619_1622delATGC NP_001395397.1:p.Asp540Valfs frameshift NM_001408469.1:c.1619_1622delATGC NP_001395398.1:p.Asp540Valfs frameshift NM_001408470.1:c.1619_1622delATGC NP_001395399.1:p.Asp540Valfs frameshift NM_001408472.1:c.1763_1766delATGC NP_001395401.1:p.Asp588Valfs frameshift NM_001408473.1:c.1760_1763delATGC NP_001395402.1:p.Asp587Valfs frameshift NM_001408474.1:c.1565_1568delATGC NP_001395403.1:p.Asp522Valfs frameshift NM_001408475.1:c.1562_1565delATGC NP_001395404.1:p.Asp521Valfs frameshift NM_001408476.1:c.1562_1565delATGC NP_001395405.1:p.Asp521Valfs frameshift NM_001408478.1:c.1556_1559delATGC NP_001395407.1:p.Asp519Valfs frameshift NM_001408479.1:c.1556_1559delATGC NP_001395408.1:p.Asp519Valfs frameshift NM_001408480.1:c.1556_1559delATGC NP_001395409.1:p.Asp519Valfs frameshift NM_001408481.1:c.1553_1556delATGC NP_001395410.1:p.Asp518Valfs frameshift NM_001408482.1:c.1553_1556delATGC NP_001395411.1:p.Asp518Valfs frameshift NM_001408483.1:c.1553_1556delATGC NP_001395412.1:p.Asp518Valfs frameshift NM_001408484.1:c.1553_1556delATGC NP_001395413.1:p.Asp518Valfs frameshift NM_001408485.1:c.1553_1556delATGC NP_001395414.1:p.Asp518Valfs frameshift NM_001408489.1:c.1553_1556delATGC NP_001395418.1:p.Asp518Valfs frameshift NM_001408490.1:c.1553_1556delATGC NP_001395419.1:p.Asp518Valfs frameshift NM_001408491.1:c.1553_1556delATGC NP_001395420.1:p.Asp518Valfs frameshift NM_001408492.1:c.1550_1553delATGC NP_001395421.1:p.Asp517Valfs frameshift NM_001408493.1:c.1550_1553delATGC NP_001395422.1:p.Asp517Valfs frameshift NM_001408494.1:c.1526_1529delATGC NP_001395423.1:p.Asp509Valfs frameshift NM_001408495.1:c.1520_1523delATGC NP_001395424.1:p.Asp507Valfs frameshift NM_001408496.1:c.1502_1505delATGC NP_001395425.1:p.Asp501Valfs frameshift NM_001408497.1:c.1502_1505delATGC NP_001395426.1:p.Asp501Valfs frameshift NM_001408498.1:c.1502_1505delATGC NP_001395427.1:p.Asp501Valfs frameshift NM_001408499.1:c.1502_1505delATGC NP_001395428.1:p.Asp501Valfs frameshift NM_001408500.1:c.1502_1505delATGC NP_001395429.1:p.Asp501Valfs frameshift NM_001408501.1:c.1502_1505delATGC NP_001395430.1:p.Asp501Valfs frameshift NM_001408502.1:c.1499_1502delATGC NP_001395431.1:p.Asp500Valfs frameshift NM_001408503.1:c.1499_1502delATGC NP_001395432.1:p.Asp500Valfs frameshift NM_001408504.1:c.1499_1502delATGC NP_001395433.1:p.Asp500Valfs frameshift NM_001408505.1:c.1496_1499delATGC NP_001395434.1:p.Asp499Valfs frameshift NM_001408506.1:c.1439_1442delATGC NP_001395435.1:p.Asp480Valfs frameshift NM_001408507.1:c.1436_1439delATGC NP_001395436.1:p.Asp479Valfs frameshift NM_001408508.1:c.1427_1430delATGC NP_001395437.1:p.Asp476Valfs frameshift NM_001408509.1:c.1424_1427delATGC NP_001395438.1:p.Asp475Valfs frameshift NM_001408510.1:c.1385_1388delATGC NP_001395439.1:p.Asp462Valfs frameshift NM_001408511.1:c.1382_1385delATGC NP_001395440.1:p.Asp461Valfs frameshift NM_001408512.1:c.1262_1265delATGC NP_001395441.1:p.Asp421Valfs frameshift NM_001408513.1:c.1235_1238delATGC NP_001395442.1:p.Asp412Valfs frameshift NM_001408514.1:c.839_842delATGC NP_001395443.1:p.Asp280Valfs frameshift NM_007297.4:c.4934_4937del NP_009228.2:p.Asp1645fs frameshift NM_007298.4:c.1763_1766delATGC NP_009229.2:p.Asp588Valfs frameshift NM_007299.4:c.1763_1766del NP_009230.2:p.Asp588fs frameshift NM_007300.4:c.5138_5141del NP_009231.2:p.Asp1713fs frameshift NM_007304.2:c.1763_1766delATGC NP_009235.2:p.Asp588Valfs frameshift NR_027676.2:n.5252_5255del non-coding transcript variant NC_000017.11:g.43063948_43063951del NC_000017.10:g.41215965_41215968del NG_005905.2:g.154033_154036del LRG_292:g.154033_154036del LRG_292t1:c.5075_5078del LRG_292p1:p.Asp1692Valfs - Protein change
- D1645fs, D1692fs, D1713fs, D588fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063947:GCAT:
-
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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV000577316.9 | |
| Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661139.9 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783389.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679624.1
First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018 |
|
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 |
|---|---|---|---|---|
| Earlier age of onset of BRCA mutation-related cancers in subsequent generations. | Litton JK | Cancer | 2012 | PMID: 21913181 |
Text-mined citations for rs397509223 ...
HelpThese citations are identified by LitVar using
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Record last updated Nov 10, 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.