ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5558_5561dup (p.Ile1855fs)
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.5558_5561dup (p.Ile1855fs)
Variation ID: 956423 Accession: VCV000956423.9
- Type and length
-
Microsatellite, 4 bp
- Location
-
Cytogenetic: 17q21.31 17: 43045708-43045709 (GRCh38) [ NCBI UCSC ] 17: 41197725-41197726 (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 Jul 16, 2020 Feb 20, 2024 Sep 13, 2019 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5558_5561dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1855fs frameshift NM_001407571.1:c.5341_5344ACCT[3] NP_001394500.1:p.Ile1784Profs frameshift NM_001407581.1:c.5620_5623ACCT[3] NP_001394510.1:p.Ile1877Profs frameshift NM_001407582.1:c.5620_5623ACCT[3] NP_001394511.1:p.Ile1877Profs frameshift NM_001407583.1:c.5617_5620ACCT[3] NP_001394512.1:p.Ile1876Profs frameshift NM_001407585.1:c.5617_5620ACCT[3] NP_001394514.1:p.Ile1876Profs frameshift NM_001407587.1:c.5617_5620ACCT[3] NP_001394516.1:p.Ile1876Profs frameshift NM_001407590.1:c.5614_5617ACCT[3] NP_001394519.1:p.Ile1875Profs frameshift NM_001407591.1:c.5614_5617ACCT[3] NP_001394520.1:p.Ile1875Profs frameshift NM_001407593.1:c.5554_5557ACCT[3] NP_001394522.1:p.Ile1855Profs frameshift NM_001407594.1:c.5554_5557ACCT[3] NP_001394523.1:p.Ile1855Profs frameshift NM_001407596.1:c.5554_5557ACCT[3] NP_001394525.1:p.Ile1855Profs frameshift NM_001407597.1:c.5554_5557ACCT[3] NP_001394526.1:p.Ile1855Profs frameshift NM_001407598.1:c.5554_5557ACCT[3] NP_001394527.1:p.Ile1855Profs frameshift NM_001407602.1:c.5554_5557ACCT[3] NP_001394531.1:p.Ile1855Profs frameshift NM_001407603.1:c.5554_5557ACCT[3] NP_001394532.1:p.Ile1855Profs frameshift NM_001407605.1:c.5554_5557ACCT[3] NP_001394534.1:p.Ile1855Profs frameshift NM_001407610.1:c.5551_5554ACCT[3] NP_001394539.1:p.Ile1854Profs frameshift NM_001407611.1:c.5551_5554ACCT[3] NP_001394540.1:p.Ile1854Profs frameshift NM_001407612.1:c.5551_5554ACCT[3] NP_001394541.1:p.Ile1854Profs frameshift NM_001407613.1:c.5551_5554ACCT[3] NP_001394542.1:p.Ile1854Profs frameshift NM_001407614.1:c.5551_5554ACCT[3] NP_001394543.1:p.Ile1854Profs frameshift NM_001407615.1:c.5551_5554ACCT[3] NP_001394544.1:p.Ile1854Profs frameshift NM_001407616.1:c.5551_5554ACCT[3] NP_001394545.1:p.Ile1854Profs frameshift NM_001407617.1:c.5551_5554ACCT[3] NP_001394546.1:p.Ile1854Profs frameshift NM_001407618.1:c.5551_5554ACCT[3] NP_001394547.1:p.Ile1854Profs frameshift NM_001407619.1:c.5551_5554ACCT[3] NP_001394548.1:p.Ile1854Profs frameshift NM_001407620.1:c.5551_5554ACCT[3] NP_001394549.1:p.Ile1854Profs frameshift NM_001407621.1:c.5551_5554ACCT[3] NP_001394550.1:p.Ile1854Profs frameshift NM_001407622.1:c.5551_5554ACCT[3] NP_001394551.1:p.Ile1854Profs frameshift NM_001407623.1:c.5551_5554ACCT[3] NP_001394552.1:p.Ile1854Profs frameshift NM_001407624.1:c.5551_5554ACCT[3] NP_001394553.1:p.Ile1854Profs frameshift NM_001407625.1:c.5551_5554ACCT[3] NP_001394554.1:p.Ile1854Profs frameshift NM_001407626.1:c.5551_5554ACCT[3] NP_001394555.1:p.Ile1854Profs frameshift NM_001407627.1:c.5548_5551ACCT[3] NP_001394556.1:p.Ile1853Profs frameshift NM_001407628.1:c.5548_5551ACCT[3] NP_001394557.1:p.Ile1853Profs frameshift NM_001407629.1:c.5548_5551ACCT[3] NP_001394558.1:p.Ile1853Profs frameshift NM_001407630.1:c.5548_5551ACCT[3] NP_001394559.1:p.Ile1853Profs frameshift NM_001407631.1:c.5548_5551ACCT[3] NP_001394560.1:p.Ile1853Profs frameshift NM_001407632.1:c.5548_5551ACCT[3] NP_001394561.1:p.Ile1853Profs frameshift NM_001407633.1:c.5548_5551ACCT[3] NP_001394562.1:p.Ile1853Profs frameshift NM_001407634.1:c.5548_5551ACCT[3] NP_001394563.1:p.Ile1853Profs frameshift NM_001407635.1:c.5548_5551ACCT[3] NP_001394564.1:p.Ile1853Profs frameshift NM_001407636.1:c.5548_5551ACCT[3] NP_001394565.1:p.Ile1853Profs frameshift NM_001407637.1:c.5548_5551ACCT[3] NP_001394566.1:p.Ile1853Profs frameshift NM_001407638.1:c.5548_5551ACCT[3] NP_001394567.1:p.Ile1853Profs frameshift NM_001407639.1:c.5548_5551ACCT[3] NP_001394568.1:p.Ile1853Profs frameshift NM_001407640.1:c.5548_5551ACCT[3] NP_001394569.1:p.Ile1853Profs frameshift NM_001407641.1:c.5548_5551ACCT[3] NP_001394570.1:p.Ile1853Profs frameshift NM_001407642.1:c.5548_5551ACCT[3] NP_001394571.1:p.Ile1853Profs frameshift NM_001407644.1:c.5545_5548ACCT[3] NP_001394573.1:p.Ile1852Profs frameshift NM_001407645.1:c.5545_5548ACCT[3] NP_001394574.1:p.Ile1852Profs frameshift NM_001407646.1:c.5542_5545ACCT[3] NP_001394575.1:p.Ile1851Profs frameshift NM_001407647.1:c.5539_5542ACCT[3] NP_001394576.1:p.Ile1850Profs frameshift NM_001407648.1:c.5497_5500ACCT[3] NP_001394577.1:p.Ile1836Profs frameshift NM_001407649.1:c.5494_5497ACCT[3] NP_001394578.1:p.Ile1835Profs frameshift NM_001407652.1:c.5476_5479ACCT[3] NP_001394581.1:p.Ile1829Profs frameshift NM_001407653.1:c.5476_5479ACCT[3] NP_001394582.1:p.Ile1829Profs frameshift NM_001407654.1:c.5476_5479ACCT[3] NP_001394583.1:p.Ile1829Profs frameshift NM_001407655.1:c.5476_5479ACCT[3] NP_001394584.1:p.Ile1829Profs frameshift NM_001407656.1:c.5473_5476ACCT[3] NP_001394585.1:p.Ile1828Profs frameshift NM_001407657.1:c.5473_5476ACCT[3] NP_001394586.1:p.Ile1828Profs frameshift NM_001407658.1:c.5473_5476ACCT[3] NP_001394587.1:p.Ile1828Profs frameshift NM_001407659.1:c.5470_5473ACCT[3] NP_001394588.1:p.Ile1827Profs frameshift NM_001407660.1:c.5470_5473ACCT[3] NP_001394589.1:p.Ile1827Profs frameshift NM_001407661.1:c.5470_5473ACCT[3] NP_001394590.1:p.Ile1827Profs frameshift NM_001407662.1:c.5470_5473ACCT[3] NP_001394591.1:p.Ile1827Profs frameshift NM_001407663.1:c.5470_5473ACCT[3] NP_001394592.1:p.Ile1827Profs frameshift NM_001407664.1:c.5431_5434ACCT[3] NP_001394593.1:p.Ile1814Profs frameshift NM_001407665.1:c.5431_5434ACCT[3] NP_001394594.1:p.Ile1814Profs frameshift NM_001407666.1:c.5431_5434ACCT[3] NP_001394595.1:p.Ile1814Profs frameshift NM_001407667.1:c.5431_5434ACCT[3] NP_001394596.1:p.Ile1814Profs frameshift NM_001407668.1:c.5431_5434ACCT[3] NP_001394597.1:p.Ile1814Profs frameshift NM_001407669.1:c.5431_5434ACCT[3] NP_001394598.1:p.Ile1814Profs frameshift NM_001407670.1:c.5428_5431ACCT[3] NP_001394599.1:p.Ile1813Profs frameshift NM_001407671.1:c.5428_5431ACCT[3] NP_001394600.1:p.Ile1813Profs frameshift NM_001407672.1:c.5428_5431ACCT[3] NP_001394601.1:p.Ile1813Profs frameshift NM_001407673.1:c.5428_5431ACCT[3] NP_001394602.1:p.Ile1813Profs frameshift NM_001407674.1:c.5428_5431ACCT[3] NP_001394603.1:p.Ile1813Profs frameshift NM_001407675.1:c.5428_5431ACCT[3] NP_001394604.1:p.Ile1813Profs frameshift NM_001407676.1:c.5428_5431ACCT[3] NP_001394605.1:p.Ile1813Profs frameshift NM_001407677.1:c.5428_5431ACCT[3] NP_001394606.1:p.Ile1813Profs frameshift NM_001407678.1:c.5428_5431ACCT[3] NP_001394607.1:p.Ile1813Profs frameshift NM_001407679.1:c.5428_5431ACCT[3] NP_001394608.1:p.Ile1813Profs frameshift NM_001407680.1:c.5428_5431ACCT[3] NP_001394609.1:p.Ile1813Profs frameshift NM_001407681.1:c.5425_5428ACCT[3] NP_001394610.1:p.Ile1812Profs frameshift NM_001407682.1:c.5425_5428ACCT[3] NP_001394611.1:p.Ile1812Profs frameshift NM_001407683.1:c.5425_5428ACCT[3] NP_001394612.1:p.Ile1812Profs frameshift NM_001407684.1:c.5425_5428ACCT[3] NP_001394613.1:p.Ile1812Profs frameshift NM_001407685.1:c.5425_5428ACCT[3] NP_001394614.1:p.Ile1812Profs frameshift NM_001407686.1:c.5425_5428ACCT[3] NP_001394615.1:p.Ile1812Profs frameshift NM_001407687.1:c.5425_5428ACCT[3] NP_001394616.1:p.Ile1812Profs frameshift NM_001407688.1:c.5425_5428ACCT[3] NP_001394617.1:p.Ile1812Profs frameshift NM_001407689.1:c.5425_5428ACCT[3] NP_001394618.1:p.Ile1812Profs frameshift NM_001407690.1:c.5422_5425ACCT[3] NP_001394619.1:p.Ile1811Profs frameshift NM_001407691.1:c.5422_5425ACCT[3] NP_001394620.1:p.Ile1811Profs frameshift NM_001407692.1:c.5413_5416ACCT[3] NP_001394621.1:p.Ile1808Profs frameshift NM_001407694.1:c.5413_5416ACCT[3] NP_001394623.1:p.Ile1808Profs frameshift NM_001407695.1:c.5413_5416ACCT[3] NP_001394624.1:p.Ile1808Profs frameshift NM_001407696.1:c.5413_5416ACCT[3] NP_001394625.1:p.Ile1808Profs frameshift NM_001407697.1:c.5413_5416ACCT[3] NP_001394626.1:p.Ile1808Profs frameshift NM_001407698.1:c.5413_5416ACCT[3] NP_001394627.1:p.Ile1808Profs frameshift NM_001407724.1:c.5413_5416ACCT[3] NP_001394653.1:p.Ile1808Profs frameshift NM_001407725.1:c.5413_5416ACCT[3] NP_001394654.1:p.Ile1808Profs frameshift NM_001407726.1:c.5413_5416ACCT[3] NP_001394655.1:p.Ile1808Profs frameshift NM_001407727.1:c.5413_5416ACCT[3] NP_001394656.1:p.Ile1808Profs frameshift NM_001407728.1:c.5413_5416ACCT[3] NP_001394657.1:p.Ile1808Profs frameshift NM_001407729.1:c.5413_5416ACCT[3] NP_001394658.1:p.Ile1808Profs frameshift NM_001407730.1:c.5413_5416ACCT[3] NP_001394659.1:p.Ile1808Profs frameshift NM_001407731.1:c.5413_5416ACCT[3] NP_001394660.1:p.Ile1808Profs frameshift NM_001407732.1:c.5410_5413ACCT[3] NP_001394661.1:p.Ile1807Profs frameshift NM_001407733.1:c.5410_5413ACCT[3] NP_001394662.1:p.Ile1807Profs frameshift NM_001407734.1:c.5410_5413ACCT[3] NP_001394663.1:p.Ile1807Profs frameshift NM_001407735.1:c.5410_5413ACCT[3] NP_001394664.1:p.Ile1807Profs frameshift NM_001407736.1:c.5410_5413ACCT[3] NP_001394665.1:p.Ile1807Profs frameshift NM_001407737.1:c.5410_5413ACCT[3] NP_001394666.1:p.Ile1807Profs frameshift NM_001407738.1:c.5410_5413ACCT[3] NP_001394667.1:p.Ile1807Profs frameshift NM_001407739.1:c.5410_5413ACCT[3] NP_001394668.1:p.Ile1807Profs frameshift NM_001407740.1:c.5410_5413ACCT[3] NP_001394669.1:p.Ile1807Profs frameshift NM_001407741.1:c.5410_5413ACCT[3] NP_001394670.1:p.Ile1807Profs frameshift NM_001407742.1:c.5410_5413ACCT[3] NP_001394671.1:p.Ile1807Profs frameshift NM_001407743.1:c.5410_5413ACCT[3] NP_001394672.1:p.Ile1807Profs frameshift NM_001407744.1:c.5410_5413ACCT[3] NP_001394673.1:p.Ile1807Profs frameshift NM_001407745.1:c.5410_5413ACCT[3] NP_001394674.1:p.Ile1807Profs frameshift NM_001407746.1:c.5410_5413ACCT[3] NP_001394675.1:p.Ile1807Profs frameshift NM_001407747.1:c.5410_5413ACCT[3] NP_001394676.1:p.Ile1807Profs frameshift NM_001407748.1:c.5410_5413ACCT[3] NP_001394677.1:p.Ile1807Profs frameshift NM_001407749.1:c.5410_5413ACCT[3] NP_001394678.1:p.Ile1807Profs frameshift NM_001407750.1:c.5410_5413ACCT[3] NP_001394679.1:p.Ile1807Profs frameshift NM_001407751.1:c.5410_5413ACCT[3] NP_001394680.1:p.Ile1807Profs frameshift NM_001407752.1:c.5410_5413ACCT[3] NP_001394681.1:p.Ile1807Profs frameshift NM_001407838.1:c.5407_5410ACCT[3] NP_001394767.1:p.Ile1806Profs frameshift NM_001407839.1:c.5407_5410ACCT[3] NP_001394768.1:p.Ile1806Profs frameshift NM_001407841.1:c.5407_5410ACCT[3] NP_001394770.1:p.Ile1806Profs frameshift NM_001407842.1:c.5407_5410ACCT[3] NP_001394771.1:p.Ile1806Profs frameshift NM_001407843.1:c.5407_5410ACCT[3] NP_001394772.1:p.Ile1806Profs frameshift NM_001407844.1:c.5407_5410ACCT[3] NP_001394773.1:p.Ile1806Profs frameshift NM_001407845.1:c.5407_5410ACCT[3] NP_001394774.1:p.Ile1806Profs frameshift NM_001407846.1:c.5407_5410ACCT[3] NP_001394775.1:p.Ile1806Profs frameshift NM_001407847.1:c.5407_5410ACCT[3] NP_001394776.1:p.Ile1806Profs frameshift NM_001407848.1:c.5407_5410ACCT[3] NP_001394777.1:p.Ile1806Profs frameshift NM_001407849.1:c.5407_5410ACCT[3] NP_001394778.1:p.Ile1806Profs frameshift NM_001407850.1:c.5407_5410ACCT[3] NP_001394779.1:p.Ile1806Profs frameshift NM_001407851.1:c.5407_5410ACCT[3] NP_001394780.1:p.Ile1806Profs frameshift NM_001407852.1:c.5407_5410ACCT[3] NP_001394781.1:p.Ile1806Profs frameshift NM_001407853.1:c.5407_5410ACCT[3] NP_001394782.1:p.Ile1806Profs frameshift NM_001407854.1:c.*68_*71ACCT[3] NM_001407858.1:c.*68_*71ACCT[3] NM_001407859.1:c.*68_*71ACCT[3] NM_001407860.1:c.*68_*71ACCT[3] NM_001407861.1:c.*68_*71ACCT[3] NM_001407862.1:c.5353_5356ACCT[3] NP_001394791.1:p.Ile1788Profs frameshift NM_001407863.1:c.5350_5353ACCT[3] NP_001394792.1:p.Ile1787Profs frameshift NM_001407874.1:c.5347_5350ACCT[3] NP_001394803.1:p.Ile1786Profs frameshift NM_001407875.1:c.5347_5350ACCT[3] NP_001394804.1:p.Ile1786Profs frameshift NM_001407879.1:c.5344_5347ACCT[3] NP_001394808.1:p.Ile1785Profs frameshift NM_001407881.1:c.5344_5347ACCT[3] NP_001394810.1:p.Ile1785Profs frameshift NM_001407882.1:c.5344_5347ACCT[3] NP_001394811.1:p.Ile1785Profs frameshift NM_001407884.1:c.5344_5347ACCT[3] NP_001394813.1:p.Ile1785Profs frameshift NM_001407885.1:c.5344_5347ACCT[3] NP_001394814.1:p.Ile1785Profs frameshift NM_001407886.1:c.5344_5347ACCT[3] NP_001394815.1:p.Ile1785Profs frameshift NM_001407887.1:c.5344_5347ACCT[3] NP_001394816.1:p.Ile1785Profs frameshift NM_001407889.1:c.5344_5347ACCT[3] NP_001394818.1:p.Ile1785Profs frameshift NM_001407894.1:c.5341_5344ACCT[3] NP_001394823.1:p.Ile1784Profs frameshift NM_001407895.1:c.5341_5344ACCT[3] NP_001394824.1:p.Ile1784Profs frameshift NM_001407896.1:c.5341_5344ACCT[3] NP_001394825.1:p.Ile1784Profs frameshift NM_001407897.1:c.5341_5344ACCT[3] NP_001394826.1:p.Ile1784Profs frameshift NM_001407898.1:c.5341_5344ACCT[3] NP_001394827.1:p.Ile1784Profs frameshift NM_001407899.1:c.5341_5344ACCT[3] NP_001394828.1:p.Ile1784Profs frameshift NM_001407900.1:c.5341_5344ACCT[3] NP_001394829.1:p.Ile1784Profs frameshift NM_001407902.1:c.5341_5344ACCT[3] NP_001394831.1:p.Ile1784Profs frameshift NM_001407904.1:c.5341_5344ACCT[3] NP_001394833.1:p.Ile1784Profs frameshift NM_001407906.1:c.5341_5344ACCT[3] NP_001394835.1:p.Ile1784Profs frameshift NM_001407907.1:c.5341_5344ACCT[3] NP_001394836.1:p.Ile1784Profs frameshift NM_001407908.1:c.5341_5344ACCT[3] NP_001394837.1:p.Ile1784Profs frameshift NM_001407909.1:c.5341_5344ACCT[3] NP_001394838.1:p.Ile1784Profs frameshift NM_001407910.1:c.5341_5344ACCT[3] NP_001394839.1:p.Ile1784Profs frameshift NM_001407915.1:c.5338_5341ACCT[3] NP_001394844.1:p.Ile1783Profs frameshift NM_001407916.1:c.5338_5341ACCT[3] NP_001394845.1:p.Ile1783Profs frameshift NM_001407917.1:c.5338_5341ACCT[3] NP_001394846.1:p.Ile1783Profs frameshift NM_001407918.1:c.5338_5341ACCT[3] NP_001394847.1:p.Ile1783Profs frameshift NM_001407919.1:c.5302_5305ACCT[3] NP_001394848.1:p.Ile1771Profs frameshift NM_001407920.1:c.5290_5293ACCT[3] NP_001394849.1:p.Ile1767Profs frameshift NM_001407921.1:c.5290_5293ACCT[3] NP_001394850.1:p.Ile1767Profs frameshift NM_001407922.1:c.5290_5293ACCT[3] NP_001394851.1:p.Ile1767Profs frameshift NM_001407923.1:c.5290_5293ACCT[3] NP_001394852.1:p.Ile1767Profs frameshift NM_001407924.1:c.5290_5293ACCT[3] NP_001394853.1:p.Ile1767Profs frameshift NM_001407925.1:c.5290_5293ACCT[3] NP_001394854.1:p.Ile1767Profs frameshift NM_001407926.1:c.5290_5293ACCT[3] NP_001394855.1:p.Ile1767Profs frameshift NM_001407927.1:c.5287_5290ACCT[3] NP_001394856.1:p.Ile1766Profs frameshift NM_001407928.1:c.5287_5290ACCT[3] NP_001394857.1:p.Ile1766Profs frameshift NM_001407929.1:c.5287_5290ACCT[3] NP_001394858.1:p.Ile1766Profs frameshift NM_001407930.1:c.5287_5290ACCT[3] NP_001394859.1:p.Ile1766Profs frameshift NM_001407931.1:c.5287_5290ACCT[3] NP_001394860.1:p.Ile1766Profs frameshift NM_001407932.1:c.5287_5290ACCT[3] NP_001394861.1:p.Ile1766Profs frameshift NM_001407933.1:c.5287_5290ACCT[3] NP_001394862.1:p.Ile1766Profs frameshift NM_001407934.1:c.5284_5287ACCT[3] NP_001394863.1:p.Ile1765Profs frameshift NM_001407935.1:c.5284_5287ACCT[3] NP_001394864.1:p.Ile1765Profs frameshift NM_001407936.1:c.5284_5287ACCT[3] NP_001394865.1:p.Ile1765Profs frameshift NM_001407937.1:c.*68_*71ACCT[3] NM_001407938.1:c.*68_*71ACCT[3] NM_001407939.1:c.*68_*71ACCT[3] NM_001407940.1:c.*68_*71ACCT[3] NM_001407941.1:c.*68_*71ACCT[3] NM_001407942.1:c.*68_*71ACCT[3] NM_001407943.1:c.*68_*71ACCT[3] NM_001407944.1:c.*68_*71ACCT[3] NM_001407945.1:c.*68_*71ACCT[3] NM_001407946.1:c.5221_5224ACCT[3] NP_001394875.1:p.Ile1744Profs frameshift NM_001407947.1:c.5221_5224ACCT[3] NP_001394876.1:p.Ile1744Profs frameshift NM_001407948.1:c.5221_5224ACCT[3] NP_001394877.1:p.Ile1744Profs frameshift NM_001407949.1:c.5221_5224ACCT[3] NP_001394878.1:p.Ile1744Profs frameshift NM_001407950.1:c.5218_5221ACCT[3] NP_001394879.1:p.Ile1743Profs frameshift NM_001407951.1:c.5218_5221ACCT[3] NP_001394880.1:p.Ile1743Profs frameshift NM_001407952.1:c.5218_5221ACCT[3] NP_001394881.1:p.Ile1743Profs frameshift NM_001407953.1:c.5218_5221ACCT[3] NP_001394882.1:p.Ile1743Profs frameshift NM_001407954.1:c.5218_5221ACCT[3] NP_001394883.1:p.Ile1743Profs frameshift NM_001407955.1:c.5218_5221ACCT[3] NP_001394884.1:p.Ile1743Profs frameshift NM_001407956.1:c.5215_5218ACCT[3] NP_001394885.1:p.Ile1742Profs frameshift NM_001407957.1:c.5215_5218ACCT[3] NP_001394886.1:p.Ile1742Profs frameshift NM_001407958.1:c.5215_5218ACCT[3] NP_001394887.1:p.Ile1742Profs frameshift NM_001407959.1:c.5173_5176ACCT[3] NP_001394888.1:p.Ile1728Profs frameshift NM_001407960.1:c.5170_5173ACCT[3] NP_001394889.1:p.Ile1727Profs frameshift NM_001407962.1:c.5170_5173ACCT[3] NP_001394891.1:p.Ile1727Profs frameshift NM_001407963.1:c.5167_5170ACCT[3] NP_001394892.1:p.Ile1726Profs frameshift NM_001407964.1:c.5092_5095ACCT[3] NP_001394893.1:p.Ile1701Profs frameshift NM_001407965.1:c.5047_5050ACCT[3] NP_001394894.1:p.Ile1686Profs frameshift NM_001407966.1:c.4666_4669ACCT[3] NP_001394895.1:p.Ile1559Profs frameshift NM_001407967.1:c.4663_4666ACCT[3] NP_001394896.1:p.Ile1558Profs frameshift NM_001407968.1:c.2950_2953ACCT[3] NP_001394897.1:p.Ile987Profs frameshift NM_001407969.1:c.2947_2950ACCT[3] NP_001394898.1:p.Ile986Profs frameshift NM_001407970.1:c.2311_2314ACCT[3] NP_001394899.1:p.Ile774Profs frameshift NM_001407971.1:c.2311_2314ACCT[3] NP_001394900.1:p.Ile774Profs frameshift NM_001407972.1:c.2308_2311ACCT[3] NP_001394901.1:p.Ile773Profs frameshift NM_001407973.1:c.2245_2248ACCT[3] NP_001394902.1:p.Ile752Profs frameshift NM_001407974.1:c.2245_2248ACCT[3] NP_001394903.1:p.Ile752Profs frameshift NM_001407975.1:c.2245_2248ACCT[3] NP_001394904.1:p.Ile752Profs frameshift NM_001407976.1:c.2245_2248ACCT[3] NP_001394905.1:p.Ile752Profs frameshift NM_001407977.1:c.2245_2248ACCT[3] NP_001394906.1:p.Ile752Profs frameshift NM_001407978.1:c.2245_2248ACCT[3] NP_001394907.1:p.Ile752Profs frameshift NM_001407979.1:c.2242_2245ACCT[3] NP_001394908.1:p.Ile751Profs frameshift NM_001407980.1:c.2242_2245ACCT[3] NP_001394909.1:p.Ile751Profs frameshift NM_001407981.1:c.2242_2245ACCT[3] NP_001394910.1:p.Ile751Profs frameshift NM_001407982.1:c.2242_2245ACCT[3] NP_001394911.1:p.Ile751Profs frameshift NM_001407983.1:c.2242_2245ACCT[3] NP_001394912.1:p.Ile751Profs frameshift NM_001407984.1:c.2242_2245ACCT[3] NP_001394913.1:p.Ile751Profs frameshift NM_001407985.1:c.2242_2245ACCT[3] NP_001394914.1:p.Ile751Profs frameshift NM_001407986.1:c.2242_2245ACCT[3] NP_001394915.1:p.Ile751Profs frameshift NM_001407990.1:c.2242_2245ACCT[3] NP_001394919.1:p.Ile751Profs frameshift NM_001407991.1:c.2242_2245ACCT[3] NP_001394920.1:p.Ile751Profs frameshift NM_001407992.1:c.2242_2245ACCT[3] NP_001394921.1:p.Ile751Profs frameshift NM_001407993.1:c.2242_2245ACCT[3] NP_001394922.1:p.Ile751Profs frameshift NM_001408392.1:c.2239_2242ACCT[3] NP_001395321.1:p.Ile750Profs frameshift NM_001408396.1:c.2239_2242ACCT[3] NP_001395325.1:p.Ile750Profs frameshift NM_001408397.1:c.2239_2242ACCT[3] NP_001395326.1:p.Ile750Profs frameshift NM_001408398.1:c.2239_2242ACCT[3] NP_001395327.1:p.Ile750Profs frameshift NM_001408399.1:c.2239_2242ACCT[3] NP_001395328.1:p.Ile750Profs frameshift NM_001408400.1:c.2239_2242ACCT[3] NP_001395329.1:p.Ile750Profs frameshift NM_001408401.1:c.2239_2242ACCT[3] NP_001395330.1:p.Ile750Profs frameshift NM_001408402.1:c.2239_2242ACCT[3] NP_001395331.1:p.Ile750Profs frameshift NM_001408403.1:c.2239_2242ACCT[3] NP_001395332.1:p.Ile750Profs frameshift NM_001408404.1:c.2239_2242ACCT[3] NP_001395333.1:p.Ile750Profs frameshift NM_001408406.1:c.2236_2239ACCT[3] NP_001395335.1:p.Ile749Profs frameshift NM_001408407.1:c.2236_2239ACCT[3] NP_001395336.1:p.Ile749Profs frameshift NM_001408408.1:c.2236_2239ACCT[3] NP_001395337.1:p.Ile749Profs frameshift NM_001408409.1:c.2233_2236ACCT[3] NP_001395338.1:p.Ile748Profs frameshift NM_001408410.1:c.2170_2173ACCT[3] NP_001395339.1:p.Ile727Profs frameshift NM_001408411.1:c.2167_2170ACCT[3] NP_001395340.1:p.Ile726Profs frameshift NM_001408412.1:c.2164_2167ACCT[3] NP_001395341.1:p.Ile725Profs frameshift NM_001408413.1:c.2164_2167ACCT[3] NP_001395342.1:p.Ile725Profs frameshift NM_001408414.1:c.2164_2167ACCT[3] NP_001395343.1:p.Ile725Profs frameshift NM_001408415.1:c.2164_2167ACCT[3] NP_001395344.1:p.Ile725Profs frameshift NM_001408416.1:c.2164_2167ACCT[3] NP_001395345.1:p.Ile725Profs frameshift NM_001408418.1:c.2128_2131ACCT[3] NP_001395347.1:p.Ile713Profs frameshift NM_001408419.1:c.2128_2131ACCT[3] NP_001395348.1:p.Ile713Profs frameshift NM_001408420.1:c.2128_2131ACCT[3] NP_001395349.1:p.Ile713Profs frameshift NM_001408421.1:c.2125_2128ACCT[3] NP_001395350.1:p.Ile712Profs frameshift NM_001408422.1:c.2125_2128ACCT[3] NP_001395351.1:p.Ile712Profs frameshift NM_001408423.1:c.2125_2128ACCT[3] NP_001395352.1:p.Ile712Profs frameshift NM_001408424.1:c.2125_2128ACCT[3] NP_001395353.1:p.Ile712Profs frameshift NM_001408425.1:c.2122_2125ACCT[3] NP_001395354.1:p.Ile711Profs frameshift NM_001408426.1:c.2122_2125ACCT[3] NP_001395355.1:p.Ile711Profs frameshift NM_001408427.1:c.2122_2125ACCT[3] NP_001395356.1:p.Ile711Profs frameshift NM_001408428.1:c.2122_2125ACCT[3] NP_001395357.1:p.Ile711Profs frameshift NM_001408429.1:c.2122_2125ACCT[3] NP_001395358.1:p.Ile711Profs frameshift NM_001408430.1:c.2122_2125ACCT[3] NP_001395359.1:p.Ile711Profs frameshift NM_001408431.1:c.2122_2125ACCT[3] NP_001395360.1:p.Ile711Profs frameshift NM_001408432.1:c.2119_2122ACCT[3] NP_001395361.1:p.Ile710Profs frameshift NM_001408433.1:c.2119_2122ACCT[3] NP_001395362.1:p.Ile710Profs frameshift NM_001408434.1:c.2119_2122ACCT[3] NP_001395363.1:p.Ile710Profs frameshift NM_001408435.1:c.2119_2122ACCT[3] NP_001395364.1:p.Ile710Profs frameshift NM_001408436.1:c.2119_2122ACCT[3] NP_001395365.1:p.Ile710Profs frameshift NM_001408437.1:c.2119_2122ACCT[3] NP_001395366.1:p.Ile710Profs frameshift NM_001408438.1:c.2119_2122ACCT[3] NP_001395367.1:p.Ile710Profs frameshift NM_001408439.1:c.2119_2122ACCT[3] NP_001395368.1:p.Ile710Profs frameshift NM_001408440.1:c.2119_2122ACCT[3] NP_001395369.1:p.Ile710Profs frameshift NM_001408441.1:c.2119_2122ACCT[3] NP_001395370.1:p.Ile710Profs frameshift NM_001408442.1:c.2119_2122ACCT[3] NP_001395371.1:p.Ile710Profs frameshift NM_001408443.1:c.2119_2122ACCT[3] NP_001395372.1:p.Ile710Profs frameshift NM_001408444.1:c.2119_2122ACCT[3] NP_001395373.1:p.Ile710Profs frameshift NM_001408445.1:c.2116_2119ACCT[3] NP_001395374.1:p.Ile709Profs frameshift NM_001408446.1:c.2116_2119ACCT[3] NP_001395375.1:p.Ile709Profs frameshift NM_001408447.1:c.2116_2119ACCT[3] NP_001395376.1:p.Ile709Profs frameshift NM_001408448.1:c.2116_2119ACCT[3] NP_001395377.1:p.Ile709Profs frameshift NM_001408450.1:c.2116_2119ACCT[3] NP_001395379.1:p.Ile709Profs frameshift NM_001408451.1:c.2110_2113ACCT[3] NP_001395380.1:p.Ile707Profs frameshift NM_001408452.1:c.2104_2107ACCT[3] NP_001395381.1:p.Ile705Profs frameshift NM_001408453.1:c.2104_2107ACCT[3] NP_001395382.1:p.Ile705Profs frameshift NM_001408454.1:c.2104_2107ACCT[3] NP_001395383.1:p.Ile705Profs frameshift NM_001408455.1:c.2104_2107ACCT[3] NP_001395384.1:p.Ile705Profs frameshift NM_001408456.1:c.2104_2107ACCT[3] NP_001395385.1:p.Ile705Profs frameshift NM_001408457.1:c.2104_2107ACCT[3] NP_001395386.1:p.Ile705Profs frameshift NM_001408458.1:c.2101_2104ACCT[3] NP_001395387.1:p.Ile704Profs frameshift NM_001408459.1:c.2101_2104ACCT[3] NP_001395388.1:p.Ile704Profs frameshift NM_001408460.1:c.2101_2104ACCT[3] NP_001395389.1:p.Ile704Profs frameshift NM_001408461.1:c.2101_2104ACCT[3] NP_001395390.1:p.Ile704Profs frameshift NM_001408462.1:c.2101_2104ACCT[3] NP_001395391.1:p.Ile704Profs frameshift NM_001408463.1:c.2101_2104ACCT[3] NP_001395392.1:p.Ile704Profs frameshift NM_001408464.1:c.2101_2104ACCT[3] NP_001395393.1:p.Ile704Profs frameshift NM_001408465.1:c.2101_2104ACCT[3] NP_001395394.1:p.Ile704Profs frameshift NM_001408466.1:c.2101_2104ACCT[3] NP_001395395.1:p.Ile704Profs frameshift NM_001408467.1:c.2101_2104ACCT[3] NP_001395396.1:p.Ile704Profs frameshift NM_001408468.1:c.2098_2101ACCT[3] NP_001395397.1:p.Ile703Profs frameshift NM_001408469.1:c.2098_2101ACCT[3] NP_001395398.1:p.Ile703Profs frameshift NM_001408470.1:c.2098_2101ACCT[3] NP_001395399.1:p.Ile703Profs frameshift NM_001408472.1:c.*68_*71ACCT[3] NM_001408473.1:c.*68_*71ACCT[3] NM_001408474.1:c.2044_2047ACCT[3] NP_001395403.1:p.Ile685Profs frameshift NM_001408475.1:c.2041_2044ACCT[3] NP_001395404.1:p.Ile684Profs frameshift NM_001408476.1:c.2041_2044ACCT[3] NP_001395405.1:p.Ile684Profs frameshift NM_001408478.1:c.2035_2038ACCT[3] NP_001395407.1:p.Ile682Profs frameshift NM_001408479.1:c.2035_2038ACCT[3] NP_001395408.1:p.Ile682Profs frameshift NM_001408480.1:c.2035_2038ACCT[3] NP_001395409.1:p.Ile682Profs frameshift NM_001408481.1:c.2032_2035ACCT[3] NP_001395410.1:p.Ile681Profs frameshift NM_001408482.1:c.2032_2035ACCT[3] NP_001395411.1:p.Ile681Profs frameshift NM_001408483.1:c.2032_2035ACCT[3] NP_001395412.1:p.Ile681Profs frameshift NM_001408484.1:c.2032_2035ACCT[3] NP_001395413.1:p.Ile681Profs frameshift NM_001408485.1:c.2032_2035ACCT[3] NP_001395414.1:p.Ile681Profs frameshift NM_001408489.1:c.2032_2035ACCT[3] NP_001395418.1:p.Ile681Profs frameshift NM_001408490.1:c.2032_2035ACCT[3] NP_001395419.1:p.Ile681Profs frameshift NM_001408491.1:c.2032_2035ACCT[3] NP_001395420.1:p.Ile681Profs frameshift NM_001408492.1:c.2029_2032ACCT[3] NP_001395421.1:p.Ile680Profs frameshift NM_001408493.1:c.2029_2032ACCT[3] NP_001395422.1:p.Ile680Profs frameshift NM_001408494.1:c.2005_2008ACCT[3] NP_001395423.1:p.Ile672Profs frameshift NM_001408495.1:c.1999_2002ACCT[3] NP_001395424.1:p.Ile670Profs frameshift NM_001408496.1:c.1981_1984ACCT[3] NP_001395425.1:p.Ile664Profs frameshift NM_001408497.1:c.1981_1984ACCT[3] NP_001395426.1:p.Ile664Profs frameshift NM_001408498.1:c.1981_1984ACCT[3] NP_001395427.1:p.Ile664Profs frameshift NM_001408499.1:c.1981_1984ACCT[3] NP_001395428.1:p.Ile664Profs frameshift NM_001408500.1:c.1981_1984ACCT[3] NP_001395429.1:p.Ile664Profs frameshift NM_001408501.1:c.1981_1984ACCT[3] NP_001395430.1:p.Ile664Profs frameshift NM_001408502.1:c.1978_1981ACCT[3] NP_001395431.1:p.Ile663Profs frameshift NM_001408503.1:c.1978_1981ACCT[3] NP_001395432.1:p.Ile663Profs frameshift NM_001408504.1:c.1978_1981ACCT[3] NP_001395433.1:p.Ile663Profs frameshift NM_001408505.1:c.1975_1978ACCT[3] NP_001395434.1:p.Ile662Profs frameshift NM_001408506.1:c.1918_1921ACCT[3] NP_001395435.1:p.Ile643Profs frameshift NM_001408507.1:c.1915_1918ACCT[3] NP_001395436.1:p.Ile642Profs frameshift NM_001408508.1:c.1906_1909ACCT[3] NP_001395437.1:p.Ile639Profs frameshift NM_001408509.1:c.1903_1906ACCT[3] NP_001395438.1:p.Ile638Profs frameshift NM_001408510.1:c.1864_1867ACCT[3] NP_001395439.1:p.Ile625Profs frameshift NM_001408511.1:c.1861_1864ACCT[3] NP_001395440.1:p.Ile624Profs frameshift NM_001408512.1:c.1741_1744ACCT[3] NP_001395441.1:p.Ile584Profs frameshift NM_001408513.1:c.1714_1717ACCT[3] NP_001395442.1:p.Ile575Profs frameshift NM_001408514.1:c.1318_1321ACCT[3] NP_001395443.1:p.Ile443Profs frameshift NM_007294.3:c.5554_5557ACCT[3] NP_009225.1:p.Ile1855Profs frameshift NM_007294.3:c.5558_5561dup frameshift NM_007297.4:c.5417_5420dup NP_009228.2:p.Ile1808fs frameshift NM_007298.4:c.2242_2245ACCT[3] NP_009229.2:p.Ile751Profs frameshift NM_007299.4:c.*68ACCT[3] 3 prime UTR NM_007300.4:c.5621_5624dup NP_009231.2:p.Ile1876fs frameshift NM_007304.2:c.2242_2245ACCT[3] NP_009235.2:p.Ile751Profs frameshift NR_027676.2:n.5731ACCT[3] non-coding transcript variant NC_000017.11:g.43045709AGGT[3] NC_000017.10:g.41197726AGGT[3] NG_005905.2:g.172268ACCT[3] LRG_292:g.172268ACCT[3] LRG_292t1:c.5554_5557ACCT[3] LRG_292p1:p.Ile1855Profs - Protein change
- I1876fs, I1808fs, I1855fs, I751fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045708:AGGTAGGT:AGGTAGGTAGGT
-
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 |
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. |
---|---|---|---|---|
Likely pathogenic (1) |
criteria provided, single submitter
|
Sep 13, 2019 | RCV001229223.8 |
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. |
|
---|---|---|---|---|---|
Likely pathogenic
(Sep 13, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001401662.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has … (more)
In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. The frameshift caused by this variant affects the C-terminal end of the BRCA1 protein, partially including the BRCT domain (residues 1646-1859), which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While a protein structural change is likely expected, functional studies have not been done to test whether or not this variant affects protein function. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Ile1855Profs*26). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acids of the BRCA1 protein and extend the protein by an additional 25 amino acids. (less)
|
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 |
---|---|---|---|---|
Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
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 |
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. | Williams RS | Nature structural biology | 2001 | PMID: 11573086 |
Text-mined citations for rs2050859456 ...
HelpRecord last updated Feb 28, 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.