This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5554_5560del (p.Asp1851_Thr1852insTer)
Germline
Classification
Help
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.
(1)
Help
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.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5554_5560del (p.Asp1851_Thr1852insTer)
Variation ID: 2573261 Accession: VCV002573261.1
- Type and length
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Deletion, 7 bp
- Location
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Cytogenetic: 17q21.31 17: 43045710-43045716 (GRCh38) [ NCBI UCSC ] 17: 41197727-41197733 (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 Jul 29, 2023 Jul 29, 2023 Feb 15, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5554_5560del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1851_Thr1852insTer nonsense NM_001407571.1:c.5341_5347del NP_001394500.1:p.Asp1780_Thr1781insTer nonsense NM_001407581.1:c.5620_5626del NP_001394510.1:p.Asp1873_Thr1874insTer nonsense NM_001407582.1:c.5620_5626del NP_001394511.1:p.Asp1873_Thr1874insTer nonsense NM_001407583.1:c.5617_5623del NP_001394512.1:p.Asp1872_Thr1873insTer nonsense NM_001407585.1:c.5617_5623del NP_001394514.1:p.Asp1872_Thr1873insTer nonsense NM_001407587.1:c.5617_5623del NP_001394516.1:p.Asp1872_Thr1873insTer nonsense NM_001407590.1:c.5614_5620del NP_001394519.1:p.Asp1871_Thr1872insTer nonsense NM_001407591.1:c.5614_5620del NP_001394520.1:p.Asp1871_Thr1872insTer nonsense NM_001407593.1:c.5554_5560del NP_001394522.1:p.Asp1851_Thr1852insTer nonsense NM_001407594.1:c.5554_5560del NP_001394523.1:p.Asp1851_Thr1852insTer nonsense NM_001407596.1:c.5554_5560del NP_001394525.1:p.Asp1851_Thr1852insTer nonsense NM_001407597.1:c.5554_5560del NP_001394526.1:p.Asp1851_Thr1852insTer nonsense NM_001407598.1:c.5554_5560del NP_001394527.1:p.Asp1851_Thr1852insTer nonsense NM_001407602.1:c.5554_5560del NP_001394531.1:p.Asp1851_Thr1852insTer nonsense NM_001407603.1:c.5554_5560del NP_001394532.1:p.Asp1851_Thr1852insTer nonsense NM_001407605.1:c.5554_5560del NP_001394534.1:p.Asp1851_Thr1852insTer nonsense NM_001407610.1:c.5551_5557del NP_001394539.1:p.Asp1850_Thr1851insTer nonsense NM_001407611.1:c.5551_5557del NP_001394540.1:p.Asp1850_Thr1851insTer nonsense NM_001407612.1:c.5551_5557del NP_001394541.1:p.Asp1850_Thr1851insTer nonsense NM_001407613.1:c.5551_5557del NP_001394542.1:p.Asp1850_Thr1851insTer nonsense NM_001407614.1:c.5551_5557del NP_001394543.1:p.Asp1850_Thr1851insTer nonsense NM_001407615.1:c.5551_5557del NP_001394544.1:p.Asp1850_Thr1851insTer nonsense NM_001407616.1:c.5551_5557del NP_001394545.1:p.Asp1850_Thr1851insTer nonsense NM_001407617.1:c.5551_5557del NP_001394546.1:p.Asp1850_Thr1851insTer nonsense NM_001407618.1:c.5551_5557del NP_001394547.1:p.Asp1850_Thr1851insTer nonsense NM_001407619.1:c.5551_5557del NP_001394548.1:p.Asp1850_Thr1851insTer nonsense NM_001407620.1:c.5551_5557del NP_001394549.1:p.Asp1850_Thr1851insTer nonsense NM_001407621.1:c.5551_5557del NP_001394550.1:p.Asp1850_Thr1851insTer nonsense NM_001407622.1:c.5551_5557del NP_001394551.1:p.Asp1850_Thr1851insTer nonsense NM_001407623.1:c.5551_5557del NP_001394552.1:p.Asp1850_Thr1851insTer nonsense NM_001407624.1:c.5551_5557del NP_001394553.1:p.Asp1850_Thr1851insTer nonsense NM_001407625.1:c.5551_5557del NP_001394554.1:p.Asp1850_Thr1851insTer nonsense NM_001407626.1:c.5551_5557del NP_001394555.1:p.Asp1850_Thr1851insTer nonsense NM_001407627.1:c.5548_5554del NP_001394556.1:p.Asp1849_Thr1850insTer nonsense NM_001407628.1:c.5548_5554del NP_001394557.1:p.Asp1849_Thr1850insTer nonsense NM_001407629.1:c.5548_5554del NP_001394558.1:p.Asp1849_Thr1850insTer nonsense NM_001407630.1:c.5548_5554del NP_001394559.1:p.Asp1849_Thr1850insTer nonsense NM_001407631.1:c.5548_5554del NP_001394560.1:p.Asp1849_Thr1850insTer nonsense NM_001407632.1:c.5548_5554del NP_001394561.1:p.Asp1849_Thr1850insTer nonsense NM_001407633.1:c.5548_5554del NP_001394562.1:p.Asp1849_Thr1850insTer nonsense NM_001407634.1:c.5548_5554del NP_001394563.1:p.Asp1849_Thr1850insTer nonsense NM_001407635.1:c.5548_5554del NP_001394564.1:p.Asp1849_Thr1850insTer nonsense NM_001407636.1:c.5548_5554del NP_001394565.1:p.Asp1849_Thr1850insTer nonsense NM_001407637.1:c.5548_5554del NP_001394566.1:p.Asp1849_Thr1850insTer nonsense NM_001407638.1:c.5548_5554del NP_001394567.1:p.Asp1849_Thr1850insTer nonsense NM_001407639.1:c.5548_5554del NP_001394568.1:p.Asp1849_Thr1850insTer nonsense NM_001407640.1:c.5548_5554del NP_001394569.1:p.Asp1849_Thr1850insTer nonsense NM_001407641.1:c.5548_5554del NP_001394570.1:p.Asp1849_Thr1850insTer nonsense NM_001407642.1:c.5548_5554del NP_001394571.1:p.Asp1849_Thr1850insTer nonsense NM_001407644.1:c.5545_5551del NP_001394573.1:p.Asp1848_Thr1849insTer nonsense NM_001407645.1:c.5545_5551del NP_001394574.1:p.Asp1848_Thr1849insTer nonsense NM_001407646.1:c.5542_5548del NP_001394575.1:p.Asp1847_Thr1848insTer nonsense NM_001407647.1:c.5539_5545del NP_001394576.1:p.Asp1846_Thr1847insTer nonsense NM_001407648.1:c.5497_5503del NP_001394577.1:p.Asp1832_Thr1833insTer nonsense NM_001407649.1:c.5494_5500del NP_001394578.1:p.Asp1831_Thr1832insTer nonsense NM_001407652.1:c.5476_5482del NP_001394581.1:p.Asp1825_Thr1826insTer nonsense NM_001407653.1:c.5476_5482del NP_001394582.1:p.Asp1825_Thr1826insTer nonsense NM_001407654.1:c.5476_5482del NP_001394583.1:p.Asp1825_Thr1826insTer nonsense NM_001407655.1:c.5476_5482del NP_001394584.1:p.Asp1825_Thr1826insTer nonsense NM_001407656.1:c.5473_5479del NP_001394585.1:p.Asp1824_Thr1825insTer nonsense NM_001407657.1:c.5473_5479del NP_001394586.1:p.Asp1824_Thr1825insTer nonsense NM_001407658.1:c.5473_5479del NP_001394587.1:p.Asp1824_Thr1825insTer nonsense NM_001407659.1:c.5470_5476del NP_001394588.1:p.Asp1823_Thr1824insTer nonsense NM_001407660.1:c.5470_5476del NP_001394589.1:p.Asp1823_Thr1824insTer nonsense NM_001407661.1:c.5470_5476del NP_001394590.1:p.Asp1823_Thr1824insTer nonsense NM_001407662.1:c.5470_5476del NP_001394591.1:p.Asp1823_Thr1824insTer nonsense NM_001407663.1:c.5470_5476del NP_001394592.1:p.Asp1823_Thr1824insTer nonsense NM_001407664.1:c.5431_5437del NP_001394593.1:p.Asp1810_Thr1811insTer nonsense NM_001407665.1:c.5431_5437del NP_001394594.1:p.Asp1810_Thr1811insTer nonsense NM_001407666.1:c.5431_5437del NP_001394595.1:p.Asp1810_Thr1811insTer nonsense NM_001407667.1:c.5431_5437del NP_001394596.1:p.Asp1810_Thr1811insTer nonsense NM_001407668.1:c.5431_5437del NP_001394597.1:p.Asp1810_Thr1811insTer nonsense NM_001407669.1:c.5431_5437del NP_001394598.1:p.Asp1810_Thr1811insTer nonsense NM_001407670.1:c.5428_5434del NP_001394599.1:p.Asp1809_Thr1810insTer nonsense NM_001407671.1:c.5428_5434del NP_001394600.1:p.Asp1809_Thr1810insTer nonsense NM_001407672.1:c.5428_5434del NP_001394601.1:p.Asp1809_Thr1810insTer nonsense NM_001407673.1:c.5428_5434del NP_001394602.1:p.Asp1809_Thr1810insTer nonsense NM_001407674.1:c.5428_5434del NP_001394603.1:p.Asp1809_Thr1810insTer nonsense NM_001407675.1:c.5428_5434del NP_001394604.1:p.Asp1809_Thr1810insTer nonsense NM_001407676.1:c.5428_5434del NP_001394605.1:p.Asp1809_Thr1810insTer nonsense NM_001407677.1:c.5428_5434del NP_001394606.1:p.Asp1809_Thr1810insTer nonsense NM_001407678.1:c.5428_5434del NP_001394607.1:p.Asp1809_Thr1810insTer nonsense NM_001407679.1:c.5428_5434del NP_001394608.1:p.Asp1809_Thr1810insTer nonsense NM_001407680.1:c.5428_5434del NP_001394609.1:p.Asp1809_Thr1810insTer nonsense NM_001407681.1:c.5425_5431del NP_001394610.1:p.Asp1808_Thr1809insTer nonsense NM_001407682.1:c.5425_5431del NP_001394611.1:p.Asp1808_Thr1809insTer nonsense NM_001407683.1:c.5425_5431del NP_001394612.1:p.Asp1808_Thr1809insTer nonsense NM_001407684.1:c.5425_5431del NP_001394613.1:p.Asp1808_Thr1809insTer nonsense NM_001407685.1:c.5425_5431del NP_001394614.1:p.Asp1808_Thr1809insTer nonsense NM_001407686.1:c.5425_5431del NP_001394615.1:p.Asp1808_Thr1809insTer nonsense NM_001407687.1:c.5425_5431del NP_001394616.1:p.Asp1808_Thr1809insTer nonsense NM_001407688.1:c.5425_5431del NP_001394617.1:p.Asp1808_Thr1809insTer nonsense NM_001407689.1:c.5425_5431del NP_001394618.1:p.Asp1808_Thr1809insTer nonsense NM_001407690.1:c.5422_5428del NP_001394619.1:p.Asp1807_Thr1808insTer nonsense NM_001407691.1:c.5422_5428del NP_001394620.1:p.Asp1807_Thr1808insTer nonsense NM_001407692.1:c.5413_5419del NP_001394621.1:p.Asp1804_Thr1805insTer nonsense NM_001407694.1:c.5413_5419del NP_001394623.1:p.Asp1804_Thr1805insTer nonsense NM_001407695.1:c.5413_5419del NP_001394624.1:p.Asp1804_Thr1805insTer nonsense NM_001407696.1:c.5413_5419del NP_001394625.1:p.Asp1804_Thr1805insTer nonsense NM_001407697.1:c.5413_5419del NP_001394626.1:p.Asp1804_Thr1805insTer nonsense NM_001407698.1:c.5413_5419del NP_001394627.1:p.Asp1804_Thr1805insTer nonsense NM_001407724.1:c.5413_5419del NP_001394653.1:p.Asp1804_Thr1805insTer nonsense NM_001407725.1:c.5413_5419del NP_001394654.1:p.Asp1804_Thr1805insTer nonsense NM_001407726.1:c.5413_5419del NP_001394655.1:p.Asp1804_Thr1805insTer nonsense NM_001407727.1:c.5413_5419del NP_001394656.1:p.Asp1804_Thr1805insTer nonsense NM_001407728.1:c.5413_5419del NP_001394657.1:p.Asp1804_Thr1805insTer nonsense NM_001407729.1:c.5413_5419del NP_001394658.1:p.Asp1804_Thr1805insTer nonsense NM_001407730.1:c.5413_5419del NP_001394659.1:p.Asp1804_Thr1805insTer nonsense NM_001407731.1:c.5413_5419del NP_001394660.1:p.Asp1804_Thr1805insTer nonsense NM_001407732.1:c.5410_5416del NP_001394661.1:p.Asp1803_Thr1804insTer nonsense NM_001407733.1:c.5410_5416del NP_001394662.1:p.Asp1803_Thr1804insTer nonsense NM_001407734.1:c.5410_5416del NP_001394663.1:p.Asp1803_Thr1804insTer nonsense NM_001407735.1:c.5410_5416del NP_001394664.1:p.Asp1803_Thr1804insTer nonsense NM_001407736.1:c.5410_5416del NP_001394665.1:p.Asp1803_Thr1804insTer nonsense NM_001407737.1:c.5410_5416del NP_001394666.1:p.Asp1803_Thr1804insTer nonsense NM_001407738.1:c.5410_5416del NP_001394667.1:p.Asp1803_Thr1804insTer nonsense NM_001407739.1:c.5410_5416del NP_001394668.1:p.Asp1803_Thr1804insTer nonsense NM_001407740.1:c.5410_5416del NP_001394669.1:p.Asp1803_Thr1804insTer nonsense NM_001407741.1:c.5410_5416del NP_001394670.1:p.Asp1803_Thr1804insTer nonsense NM_001407742.1:c.5410_5416del NP_001394671.1:p.Asp1803_Thr1804insTer nonsense NM_001407743.1:c.5410_5416del NP_001394672.1:p.Asp1803_Thr1804insTer nonsense NM_001407744.1:c.5410_5416del NP_001394673.1:p.Asp1803_Thr1804insTer nonsense NM_001407745.1:c.5410_5416del NP_001394674.1:p.Asp1803_Thr1804insTer nonsense NM_001407746.1:c.5410_5416del NP_001394675.1:p.Asp1803_Thr1804insTer nonsense NM_001407747.1:c.5410_5416del NP_001394676.1:p.Asp1803_Thr1804insTer nonsense NM_001407748.1:c.5410_5416del NP_001394677.1:p.Asp1803_Thr1804insTer nonsense NM_001407749.1:c.5410_5416del NP_001394678.1:p.Asp1803_Thr1804insTer nonsense NM_001407750.1:c.5410_5416del NP_001394679.1:p.Asp1803_Thr1804insTer nonsense NM_001407751.1:c.5410_5416del NP_001394680.1:p.Asp1803_Thr1804insTer nonsense NM_001407752.1:c.5410_5416del NP_001394681.1:p.Asp1803_Thr1804insTer nonsense NM_001407838.1:c.5407_5413del NP_001394767.1:p.Asp1802_Thr1803insTer nonsense NM_001407839.1:c.5407_5413del NP_001394768.1:p.Asp1802_Thr1803insTer nonsense NM_001407841.1:c.5407_5413del NP_001394770.1:p.Asp1802_Thr1803insTer nonsense NM_001407842.1:c.5407_5413del NP_001394771.1:p.Asp1802_Thr1803insTer nonsense NM_001407843.1:c.5407_5413del NP_001394772.1:p.Asp1802_Thr1803insTer nonsense NM_001407844.1:c.5407_5413del NP_001394773.1:p.Asp1802_Thr1803insTer nonsense NM_001407845.1:c.5407_5413del NP_001394774.1:p.Asp1802_Thr1803insTer nonsense NM_001407846.1:c.5407_5413del NP_001394775.1:p.Asp1802_Thr1803insTer nonsense NM_001407847.1:c.5407_5413del NP_001394776.1:p.Asp1802_Thr1803insTer nonsense NM_001407848.1:c.5407_5413del NP_001394777.1:p.Asp1802_Thr1803insTer nonsense NM_001407849.1:c.5407_5413del NP_001394778.1:p.Asp1802_Thr1803insTer nonsense NM_001407850.1:c.5407_5413del NP_001394779.1:p.Asp1802_Thr1803insTer nonsense NM_001407851.1:c.5407_5413del NP_001394780.1:p.Asp1802_Thr1803insTer nonsense NM_001407852.1:c.5407_5413del NP_001394781.1:p.Asp1802_Thr1803insTer nonsense NM_001407853.1:c.5407_5413del NP_001394782.1:p.Asp1802_Thr1803insTer nonsense NM_001407854.1:c.*68_*74del 3 prime UTR NM_001407858.1:c.*68_*74del 3 prime UTR NM_001407859.1:c.*68_*74del 3 prime UTR NM_001407860.1:c.*68_*74del 3 prime UTR NM_001407861.1:c.*68_*74del 3 prime UTR NM_001407862.1:c.5353_5359del NP_001394791.1:p.Asp1784_Thr1785insTer nonsense NM_001407863.1:c.5350_5356del NP_001394792.1:p.Asp1783_Thr1784insTer nonsense NM_001407874.1:c.5347_5353del NP_001394803.1:p.Asp1782_Thr1783insTer nonsense NM_001407875.1:c.5347_5353del NP_001394804.1:p.Asp1782_Thr1783insTer nonsense NM_001407879.1:c.5344_5350del NP_001394808.1:p.Asp1781_Thr1782insTer nonsense NM_001407881.1:c.5344_5350del NP_001394810.1:p.Asp1781_Thr1782insTer nonsense NM_001407882.1:c.5344_5350del NP_001394811.1:p.Asp1781_Thr1782insTer nonsense NM_001407884.1:c.5344_5350del NP_001394813.1:p.Asp1781_Thr1782insTer nonsense NM_001407885.1:c.5344_5350del NP_001394814.1:p.Asp1781_Thr1782insTer nonsense NM_001407886.1:c.5344_5350del NP_001394815.1:p.Asp1781_Thr1782insTer nonsense NM_001407887.1:c.5344_5350del NP_001394816.1:p.Asp1781_Thr1782insTer nonsense NM_001407889.1:c.5344_5350del NP_001394818.1:p.Asp1781_Thr1782insTer nonsense NM_001407894.1:c.5341_5347del NP_001394823.1:p.Asp1780_Thr1781insTer nonsense NM_001407895.1:c.5341_5347del NP_001394824.1:p.Asp1780_Thr1781insTer nonsense NM_001407896.1:c.5341_5347del NP_001394825.1:p.Asp1780_Thr1781insTer nonsense NM_001407897.1:c.5341_5347del NP_001394826.1:p.Asp1780_Thr1781insTer nonsense NM_001407898.1:c.5341_5347del NP_001394827.1:p.Asp1780_Thr1781insTer nonsense NM_001407899.1:c.5341_5347del NP_001394828.1:p.Asp1780_Thr1781insTer nonsense NM_001407900.1:c.5341_5347del NP_001394829.1:p.Asp1780_Thr1781insTer nonsense NM_001407902.1:c.5341_5347del NP_001394831.1:p.Asp1780_Thr1781insTer nonsense NM_001407904.1:c.5341_5347del NP_001394833.1:p.Asp1780_Thr1781insTer nonsense NM_001407906.1:c.5341_5347del NP_001394835.1:p.Asp1780_Thr1781insTer nonsense NM_001407907.1:c.5341_5347del NP_001394836.1:p.Asp1780_Thr1781insTer nonsense NM_001407908.1:c.5341_5347del NP_001394837.1:p.Asp1780_Thr1781insTer nonsense NM_001407909.1:c.5341_5347del NP_001394838.1:p.Asp1780_Thr1781insTer nonsense NM_001407910.1:c.5341_5347del NP_001394839.1:p.Asp1780_Thr1781insTer nonsense NM_001407915.1:c.5338_5344del NP_001394844.1:p.Asp1779_Thr1780insTer nonsense NM_001407916.1:c.5338_5344del NP_001394845.1:p.Asp1779_Thr1780insTer nonsense NM_001407917.1:c.5338_5344del NP_001394846.1:p.Asp1779_Thr1780insTer nonsense NM_001407918.1:c.5338_5344del NP_001394847.1:p.Asp1779_Thr1780insTer nonsense NM_001407919.1:c.5302_5308del NP_001394848.1:p.Asp1767_Thr1768insTer nonsense NM_001407920.1:c.5290_5296del NP_001394849.1:p.Asp1763_Thr1764insTer nonsense NM_001407921.1:c.5290_5296del NP_001394850.1:p.Asp1763_Thr1764insTer nonsense NM_001407922.1:c.5290_5296del NP_001394851.1:p.Asp1763_Thr1764insTer nonsense NM_001407923.1:c.5290_5296del NP_001394852.1:p.Asp1763_Thr1764insTer nonsense NM_001407924.1:c.5290_5296del NP_001394853.1:p.Asp1763_Thr1764insTer nonsense NM_001407925.1:c.5290_5296del NP_001394854.1:p.Asp1763_Thr1764insTer nonsense NM_001407926.1:c.5290_5296del NP_001394855.1:p.Asp1763_Thr1764insTer nonsense NM_001407927.1:c.5287_5293del NP_001394856.1:p.Asp1762_Thr1763insTer nonsense NM_001407928.1:c.5287_5293del NP_001394857.1:p.Asp1762_Thr1763insTer nonsense NM_001407929.1:c.5287_5293del NP_001394858.1:p.Asp1762_Thr1763insTer nonsense NM_001407930.1:c.5287_5293del NP_001394859.1:p.Asp1762_Thr1763insTer nonsense NM_001407931.1:c.5287_5293del NP_001394860.1:p.Asp1762_Thr1763insTer nonsense NM_001407932.1:c.5287_5293del NP_001394861.1:p.Asp1762_Thr1763insTer nonsense NM_001407933.1:c.5287_5293del NP_001394862.1:p.Asp1762_Thr1763insTer nonsense NM_001407934.1:c.5284_5290del NP_001394863.1:p.Asp1761_Thr1762insTer nonsense NM_001407935.1:c.5284_5290del NP_001394864.1:p.Asp1761_Thr1762insTer nonsense NM_001407936.1:c.5284_5290del NP_001394865.1:p.Asp1761_Thr1762insTer nonsense NM_001407937.1:c.*68_*74del 3 prime UTR NM_001407938.1:c.*68_*74del 3 prime UTR NM_001407939.1:c.*68_*74del 3 prime UTR NM_001407940.1:c.*68_*74del 3 prime UTR NM_001407941.1:c.*68_*74del 3 prime UTR NM_001407942.1:c.*68_*74del 3 prime UTR NM_001407943.1:c.*68_*74del 3 prime UTR NM_001407944.1:c.*68_*74del 3 prime UTR NM_001407945.1:c.*68_*74del 3 prime UTR NM_001407946.1:c.5221_5227del NP_001394875.1:p.Asp1740_Thr1741insTer nonsense NM_001407947.1:c.5221_5227del NP_001394876.1:p.Asp1740_Thr1741insTer nonsense NM_001407948.1:c.5221_5227del NP_001394877.1:p.Asp1740_Thr1741insTer nonsense NM_001407949.1:c.5221_5227del NP_001394878.1:p.Asp1740_Thr1741insTer nonsense NM_001407950.1:c.5218_5224del NP_001394879.1:p.Asp1739_Thr1740insTer nonsense NM_001407951.1:c.5218_5224del NP_001394880.1:p.Asp1739_Thr1740insTer nonsense NM_001407952.1:c.5218_5224del NP_001394881.1:p.Asp1739_Thr1740insTer nonsense NM_001407953.1:c.5218_5224del NP_001394882.1:p.Asp1739_Thr1740insTer nonsense NM_001407954.1:c.5218_5224del NP_001394883.1:p.Asp1739_Thr1740insTer nonsense NM_001407955.1:c.5218_5224del NP_001394884.1:p.Asp1739_Thr1740insTer nonsense NM_001407956.1:c.5215_5221del NP_001394885.1:p.Asp1738_Thr1739insTer nonsense NM_001407957.1:c.5215_5221del NP_001394886.1:p.Asp1738_Thr1739insTer nonsense NM_001407958.1:c.5215_5221del NP_001394887.1:p.Asp1738_Thr1739insTer nonsense NM_001407959.1:c.5173_5179del NP_001394888.1:p.Asp1724_Thr1725insTer nonsense NM_001407960.1:c.5170_5176del NP_001394889.1:p.Asp1723_Thr1724insTer nonsense NM_001407962.1:c.5170_5176del NP_001394891.1:p.Asp1723_Thr1724insTer nonsense NM_001407963.1:c.5167_5173del NP_001394892.1:p.Asp1722_Thr1723insTer nonsense NM_001407964.1:c.5092_5098del NP_001394893.1:p.Asp1697_Thr1698insTer nonsense NM_001407965.1:c.5047_5053del NP_001394894.1:p.Asp1682_Thr1683insTer nonsense NM_001407966.1:c.4666_4672del NP_001394895.1:p.Asp1555_Thr1556insTer nonsense NM_001407967.1:c.4663_4669del NP_001394896.1:p.Asp1554_Thr1555insTer nonsense NM_001407968.1:c.2950_2956del NP_001394897.1:p.Asp983_Thr984insTer nonsense NM_001407969.1:c.2947_2953del NP_001394898.1:p.Asp982_Thr983insTer nonsense NM_001407970.1:c.2311_2317del NP_001394899.1:p.Asp770_Thr771insTer nonsense NM_001407971.1:c.2311_2317del NP_001394900.1:p.Asp770_Thr771insTer nonsense NM_001407972.1:c.2308_2314del NP_001394901.1:p.Asp769_Thr770insTer nonsense NM_001407973.1:c.2245_2251del NP_001394902.1:p.Asp748_Thr749insTer nonsense NM_001407974.1:c.2245_2251del NP_001394903.1:p.Asp748_Thr749insTer nonsense NM_001407975.1:c.2245_2251del NP_001394904.1:p.Asp748_Thr749insTer nonsense NM_001407976.1:c.2245_2251del NP_001394905.1:p.Asp748_Thr749insTer nonsense NM_001407977.1:c.2245_2251del NP_001394906.1:p.Asp748_Thr749insTer nonsense NM_001407978.1:c.2245_2251del NP_001394907.1:p.Asp748_Thr749insTer nonsense NM_001407979.1:c.2242_2248del NP_001394908.1:p.Asp747_Thr748insTer nonsense NM_001407980.1:c.2242_2248del NP_001394909.1:p.Asp747_Thr748insTer nonsense NM_001407981.1:c.2242_2248del NP_001394910.1:p.Asp747_Thr748insTer nonsense NM_001407982.1:c.2242_2248del NP_001394911.1:p.Asp747_Thr748insTer nonsense NM_001407983.1:c.2242_2248del NP_001394912.1:p.Asp747_Thr748insTer nonsense NM_001407984.1:c.2242_2248del NP_001394913.1:p.Asp747_Thr748insTer nonsense NM_001407985.1:c.2242_2248del NP_001394914.1:p.Asp747_Thr748insTer nonsense NM_001407986.1:c.2242_2248del NP_001394915.1:p.Asp747_Thr748insTer nonsense NM_001407990.1:c.2242_2248del NP_001394919.1:p.Asp747_Thr748insTer nonsense NM_001407991.1:c.2242_2248del NP_001394920.1:p.Asp747_Thr748insTer nonsense NM_001407992.1:c.2242_2248del NP_001394921.1:p.Asp747_Thr748insTer nonsense NM_001407993.1:c.2242_2248del NP_001394922.1:p.Asp747_Thr748insTer nonsense NM_001408392.1:c.2239_2245del NP_001395321.1:p.Asp746_Thr747insTer nonsense NM_001408396.1:c.2239_2245del NP_001395325.1:p.Asp746_Thr747insTer nonsense NM_001408397.1:c.2239_2245del NP_001395326.1:p.Asp746_Thr747insTer nonsense NM_001408398.1:c.2239_2245del NP_001395327.1:p.Asp746_Thr747insTer nonsense NM_001408399.1:c.2239_2245del NP_001395328.1:p.Asp746_Thr747insTer nonsense NM_001408400.1:c.2239_2245del NP_001395329.1:p.Asp746_Thr747insTer nonsense NM_001408401.1:c.2239_2245del NP_001395330.1:p.Asp746_Thr747insTer nonsense NM_001408402.1:c.2239_2245del NP_001395331.1:p.Asp746_Thr747insTer nonsense NM_001408403.1:c.2239_2245del NP_001395332.1:p.Asp746_Thr747insTer nonsense NM_001408404.1:c.2239_2245del NP_001395333.1:p.Asp746_Thr747insTer nonsense NM_001408406.1:c.2236_2242del NP_001395335.1:p.Asp745_Thr746insTer nonsense NM_001408407.1:c.2236_2242del NP_001395336.1:p.Asp745_Thr746insTer nonsense NM_001408408.1:c.2236_2242del NP_001395337.1:p.Asp745_Thr746insTer nonsense NM_001408409.1:c.2233_2239del NP_001395338.1:p.Asp744_Thr745insTer nonsense NM_001408410.1:c.2170_2176del NP_001395339.1:p.Asp723_Thr724insTer nonsense NM_001408411.1:c.2167_2173del NP_001395340.1:p.Asp722_Thr723insTer nonsense NM_001408412.1:c.2164_2170del NP_001395341.1:p.Asp721_Thr722insTer nonsense NM_001408413.1:c.2164_2170del NP_001395342.1:p.Asp721_Thr722insTer nonsense NM_001408414.1:c.2164_2170del NP_001395343.1:p.Asp721_Thr722insTer nonsense NM_001408415.1:c.2164_2170del NP_001395344.1:p.Asp721_Thr722insTer nonsense NM_001408416.1:c.2164_2170del NP_001395345.1:p.Asp721_Thr722insTer nonsense NM_001408418.1:c.2128_2134del NP_001395347.1:p.Asp709_Thr710insTer nonsense NM_001408419.1:c.2128_2134del NP_001395348.1:p.Asp709_Thr710insTer nonsense NM_001408420.1:c.2128_2134del NP_001395349.1:p.Asp709_Thr710insTer nonsense NM_001408421.1:c.2125_2131del NP_001395350.1:p.Asp708_Thr709insTer nonsense NM_001408422.1:c.2125_2131del NP_001395351.1:p.Asp708_Thr709insTer nonsense NM_001408423.1:c.2125_2131del NP_001395352.1:p.Asp708_Thr709insTer nonsense NM_001408424.1:c.2125_2131del NP_001395353.1:p.Asp708_Thr709insTer nonsense NM_001408425.1:c.2122_2128del NP_001395354.1:p.Asp707_Thr708insTer nonsense NM_001408426.1:c.2122_2128del NP_001395355.1:p.Asp707_Thr708insTer nonsense NM_001408427.1:c.2122_2128del NP_001395356.1:p.Asp707_Thr708insTer nonsense NM_001408428.1:c.2122_2128del NP_001395357.1:p.Asp707_Thr708insTer nonsense NM_001408429.1:c.2122_2128del NP_001395358.1:p.Asp707_Thr708insTer nonsense NM_001408430.1:c.2122_2128del NP_001395359.1:p.Asp707_Thr708insTer nonsense NM_001408431.1:c.2122_2128del NP_001395360.1:p.Asp707_Thr708insTer nonsense NM_001408432.1:c.2119_2125del NP_001395361.1:p.Asp706_Thr707insTer nonsense NM_001408433.1:c.2119_2125del NP_001395362.1:p.Asp706_Thr707insTer nonsense NM_001408434.1:c.2119_2125del NP_001395363.1:p.Asp706_Thr707insTer nonsense NM_001408435.1:c.2119_2125del NP_001395364.1:p.Asp706_Thr707insTer nonsense NM_001408436.1:c.2119_2125del NP_001395365.1:p.Asp706_Thr707insTer nonsense NM_001408437.1:c.2119_2125del NP_001395366.1:p.Asp706_Thr707insTer nonsense NM_001408438.1:c.2119_2125del NP_001395367.1:p.Asp706_Thr707insTer nonsense NM_001408439.1:c.2119_2125del NP_001395368.1:p.Asp706_Thr707insTer nonsense NM_001408440.1:c.2119_2125del NP_001395369.1:p.Asp706_Thr707insTer nonsense NM_001408441.1:c.2119_2125del NP_001395370.1:p.Asp706_Thr707insTer nonsense NM_001408442.1:c.2119_2125del NP_001395371.1:p.Asp706_Thr707insTer nonsense NM_001408443.1:c.2119_2125del NP_001395372.1:p.Asp706_Thr707insTer nonsense NM_001408444.1:c.2119_2125del NP_001395373.1:p.Asp706_Thr707insTer nonsense NM_001408445.1:c.2116_2122del NP_001395374.1:p.Asp705_Thr706insTer nonsense NM_001408446.1:c.2116_2122del NP_001395375.1:p.Asp705_Thr706insTer nonsense NM_001408447.1:c.2116_2122del NP_001395376.1:p.Asp705_Thr706insTer nonsense NM_001408448.1:c.2116_2122del NP_001395377.1:p.Asp705_Thr706insTer nonsense NM_001408450.1:c.2116_2122del NP_001395379.1:p.Asp705_Thr706insTer nonsense NM_001408451.1:c.2110_2116del NP_001395380.1:p.Asp703_Thr704insTer nonsense NM_001408452.1:c.2104_2110del NP_001395381.1:p.Asp701_Thr702insTer nonsense NM_001408453.1:c.2104_2110del NP_001395382.1:p.Asp701_Thr702insTer nonsense NM_001408454.1:c.2104_2110del NP_001395383.1:p.Asp701_Thr702insTer nonsense NM_001408455.1:c.2104_2110del NP_001395384.1:p.Asp701_Thr702insTer nonsense NM_001408456.1:c.2104_2110del NP_001395385.1:p.Asp701_Thr702insTer nonsense NM_001408457.1:c.2104_2110del NP_001395386.1:p.Asp701_Thr702insTer nonsense NM_001408458.1:c.2101_2107del NP_001395387.1:p.Asp700_Thr701insTer nonsense NM_001408459.1:c.2101_2107del NP_001395388.1:p.Asp700_Thr701insTer nonsense NM_001408460.1:c.2101_2107del NP_001395389.1:p.Asp700_Thr701insTer nonsense NM_001408461.1:c.2101_2107del NP_001395390.1:p.Asp700_Thr701insTer nonsense NM_001408462.1:c.2101_2107del NP_001395391.1:p.Asp700_Thr701insTer nonsense NM_001408463.1:c.2101_2107del NP_001395392.1:p.Asp700_Thr701insTer nonsense NM_001408464.1:c.2101_2107del NP_001395393.1:p.Asp700_Thr701insTer nonsense NM_001408465.1:c.2101_2107del NP_001395394.1:p.Asp700_Thr701insTer nonsense NM_001408466.1:c.2101_2107del NP_001395395.1:p.Asp700_Thr701insTer nonsense NM_001408467.1:c.2101_2107del NP_001395396.1:p.Asp700_Thr701insTer nonsense NM_001408468.1:c.2098_2104del NP_001395397.1:p.Asp699_Thr700insTer nonsense NM_001408469.1:c.2098_2104del NP_001395398.1:p.Asp699_Thr700insTer nonsense NM_001408470.1:c.2098_2104del NP_001395399.1:p.Asp699_Thr700insTer nonsense NM_001408472.1:c.*68_*74del 3 prime UTR NM_001408473.1:c.*68_*74del 3 prime UTR NM_001408474.1:c.2044_2050del NP_001395403.1:p.Asp681_Thr682insTer nonsense NM_001408475.1:c.2041_2047del NP_001395404.1:p.Asp680_Thr681insTer nonsense NM_001408476.1:c.2041_2047del NP_001395405.1:p.Asp680_Thr681insTer nonsense NM_001408478.1:c.2035_2041del NP_001395407.1:p.Asp678_Thr679insTer nonsense NM_001408479.1:c.2035_2041del NP_001395408.1:p.Asp678_Thr679insTer nonsense NM_001408480.1:c.2035_2041del NP_001395409.1:p.Asp678_Thr679insTer nonsense NM_001408481.1:c.2032_2038del NP_001395410.1:p.Asp677_Thr678insTer nonsense NM_001408482.1:c.2032_2038del NP_001395411.1:p.Asp677_Thr678insTer nonsense NM_001408483.1:c.2032_2038del NP_001395412.1:p.Asp677_Thr678insTer nonsense NM_001408484.1:c.2032_2038del NP_001395413.1:p.Asp677_Thr678insTer nonsense NM_001408485.1:c.2032_2038del NP_001395414.1:p.Asp677_Thr678insTer nonsense NM_001408489.1:c.2032_2038del NP_001395418.1:p.Asp677_Thr678insTer nonsense NM_001408490.1:c.2032_2038del NP_001395419.1:p.Asp677_Thr678insTer nonsense NM_001408491.1:c.2032_2038del NP_001395420.1:p.Asp677_Thr678insTer nonsense NM_001408492.1:c.2029_2035del NP_001395421.1:p.Asp676_Thr677insTer nonsense NM_001408493.1:c.2029_2035del NP_001395422.1:p.Asp676_Thr677insTer nonsense NM_001408494.1:c.2005_2011del NP_001395423.1:p.Asp668_Thr669insTer nonsense NM_001408495.1:c.1999_2005del NP_001395424.1:p.Asp666_Thr667insTer nonsense NM_001408496.1:c.1981_1987del NP_001395425.1:p.Asp660_Thr661insTer nonsense NM_001408497.1:c.1981_1987del NP_001395426.1:p.Asp660_Thr661insTer nonsense NM_001408498.1:c.1981_1987del NP_001395427.1:p.Asp660_Thr661insTer nonsense NM_001408499.1:c.1981_1987del NP_001395428.1:p.Asp660_Thr661insTer nonsense NM_001408500.1:c.1981_1987del NP_001395429.1:p.Asp660_Thr661insTer nonsense NM_001408501.1:c.1981_1987del NP_001395430.1:p.Asp660_Thr661insTer nonsense NM_001408502.1:c.1978_1984del NP_001395431.1:p.Asp659_Thr660insTer nonsense NM_001408503.1:c.1978_1984del NP_001395432.1:p.Asp659_Thr660insTer nonsense NM_001408504.1:c.1978_1984del NP_001395433.1:p.Asp659_Thr660insTer nonsense NM_001408505.1:c.1975_1981del NP_001395434.1:p.Asp658_Thr659insTer nonsense NM_001408506.1:c.1918_1924del NP_001395435.1:p.Asp639_Thr640insTer nonsense NM_001408507.1:c.1915_1921del NP_001395436.1:p.Asp638_Thr639insTer nonsense NM_001408508.1:c.1906_1912del NP_001395437.1:p.Asp635_Thr636insTer nonsense NM_001408509.1:c.1903_1909del NP_001395438.1:p.Asp634_Thr635insTer nonsense NM_001408510.1:c.1864_1870del NP_001395439.1:p.Asp621_Thr622insTer nonsense NM_001408511.1:c.1861_1867del NP_001395440.1:p.Asp620_Thr621insTer nonsense NM_001408512.1:c.1741_1747del NP_001395441.1:p.Asp580_Thr581insTer nonsense NM_001408513.1:c.1714_1720del NP_001395442.1:p.Asp571_Thr572insTer nonsense NM_001408514.1:c.1318_1324del NP_001395443.1:p.Asp439_Thr440insTer nonsense NM_007297.4:c.5413_5419del NP_009228.2:p.Asp1804_Thr1805insTer nonsense NM_007298.4:c.2242_2248del NP_009229.2:p.Asp747_Thr748insTer nonsense NM_007299.4:c.*68_*74del 3 prime UTR NM_007300.4:c.5617_5623del NP_009231.2:p.Asp1872_Thr1873insTer nonsense NM_007304.2:c.2241_2247delCACCTAC NP_009235.2:p.Thr748Terfs frameshift nonsense NR_027676.2:n.5730_5736delCACCTAC NC_000017.11:g.43045711_43045717del NC_000017.10:g.41197728_41197734del NG_005905.2:g.172268_172274del LRG_292:g.172268_172274del LRG_292t1:c.5553_5559del LRG_292p1:p.Thr1852Terfs - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045709:GGTAGGTG:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Feb 15, 2023 | RCV003316950.1 |
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
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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
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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
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Feb 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004019911.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
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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:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.