ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
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
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NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
Variation ID: 266564 Accession: VCV000266564.14
- Type and length
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Deletion, 5 bp
- Location
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Cytogenetic: 17q21.31 17: 43045710-43045714 (GRCh38) [ NCBI UCSC ] 17: 41197727-41197731 (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 Oct 22, 2016 Feb 20, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5556_5560del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1853fs frameshift NM_001407571.1:c.5342_5346delCCTAC NP_001394500.1:p.Tyr1782Aspfs frameshift NM_001407581.1:c.5621_5625delCCTAC NP_001394510.1:p.Tyr1875Aspfs frameshift NM_001407582.1:c.5621_5625delCCTAC NP_001394511.1:p.Tyr1875Aspfs frameshift NM_001407583.1:c.5618_5622delCCTAC NP_001394512.1:p.Tyr1874Aspfs frameshift NM_001407585.1:c.5618_5622delCCTAC NP_001394514.1:p.Tyr1874Aspfs frameshift NM_001407587.1:c.5618_5622delCCTAC NP_001394516.1:p.Tyr1874Aspfs frameshift NM_001407590.1:c.5615_5619delCCTAC NP_001394519.1:p.Tyr1873Aspfs frameshift NM_001407591.1:c.5615_5619delCCTAC NP_001394520.1:p.Tyr1873Aspfs frameshift NM_001407593.1:c.5555_5559delCCTAC NP_001394522.1:p.Tyr1853Aspfs frameshift NM_001407594.1:c.5555_5559delCCTAC NP_001394523.1:p.Tyr1853Aspfs frameshift NM_001407596.1:c.5555_5559delCCTAC NP_001394525.1:p.Tyr1853Aspfs frameshift NM_001407597.1:c.5555_5559delCCTAC NP_001394526.1:p.Tyr1853Aspfs frameshift NM_001407598.1:c.5555_5559delCCTAC NP_001394527.1:p.Tyr1853Aspfs frameshift NM_001407602.1:c.5555_5559delCCTAC NP_001394531.1:p.Tyr1853Aspfs frameshift NM_001407603.1:c.5555_5559delCCTAC NP_001394532.1:p.Tyr1853Aspfs frameshift NM_001407605.1:c.5555_5559delCCTAC NP_001394534.1:p.Tyr1853Aspfs frameshift NM_001407610.1:c.5552_5556delCCTAC NP_001394539.1:p.Tyr1852Aspfs frameshift NM_001407611.1:c.5552_5556delCCTAC NP_001394540.1:p.Tyr1852Aspfs frameshift NM_001407612.1:c.5552_5556delCCTAC NP_001394541.1:p.Tyr1852Aspfs frameshift NM_001407613.1:c.5552_5556delCCTAC NP_001394542.1:p.Tyr1852Aspfs frameshift NM_001407614.1:c.5552_5556delCCTAC NP_001394543.1:p.Tyr1852Aspfs frameshift NM_001407615.1:c.5552_5556delCCTAC NP_001394544.1:p.Tyr1852Aspfs frameshift NM_001407616.1:c.5552_5556delCCTAC NP_001394545.1:p.Tyr1852Aspfs frameshift NM_001407617.1:c.5552_5556delCCTAC NP_001394546.1:p.Tyr1852Aspfs frameshift NM_001407618.1:c.5552_5556delCCTAC NP_001394547.1:p.Tyr1852Aspfs frameshift NM_001407619.1:c.5552_5556delCCTAC NP_001394548.1:p.Tyr1852Aspfs frameshift NM_001407620.1:c.5552_5556delCCTAC NP_001394549.1:p.Tyr1852Aspfs frameshift NM_001407621.1:c.5552_5556delCCTAC NP_001394550.1:p.Tyr1852Aspfs frameshift NM_001407622.1:c.5552_5556delCCTAC NP_001394551.1:p.Tyr1852Aspfs frameshift NM_001407623.1:c.5552_5556delCCTAC NP_001394552.1:p.Tyr1852Aspfs frameshift NM_001407624.1:c.5552_5556delCCTAC NP_001394553.1:p.Tyr1852Aspfs frameshift NM_001407625.1:c.5552_5556delCCTAC NP_001394554.1:p.Tyr1852Aspfs frameshift NM_001407626.1:c.5552_5556delCCTAC NP_001394555.1:p.Tyr1852Aspfs frameshift NM_001407627.1:c.5549_5553delCCTAC NP_001394556.1:p.Tyr1851Aspfs frameshift NM_001407628.1:c.5549_5553delCCTAC NP_001394557.1:p.Tyr1851Aspfs frameshift NM_001407629.1:c.5549_5553delCCTAC NP_001394558.1:p.Tyr1851Aspfs frameshift NM_001407630.1:c.5549_5553delCCTAC NP_001394559.1:p.Tyr1851Aspfs frameshift NM_001407631.1:c.5549_5553delCCTAC NP_001394560.1:p.Tyr1851Aspfs frameshift NM_001407632.1:c.5549_5553delCCTAC NP_001394561.1:p.Tyr1851Aspfs frameshift NM_001407633.1:c.5549_5553delCCTAC NP_001394562.1:p.Tyr1851Aspfs frameshift NM_001407634.1:c.5549_5553delCCTAC NP_001394563.1:p.Tyr1851Aspfs frameshift NM_001407635.1:c.5549_5553delCCTAC NP_001394564.1:p.Tyr1851Aspfs frameshift NM_001407636.1:c.5549_5553delCCTAC NP_001394565.1:p.Tyr1851Aspfs frameshift NM_001407637.1:c.5549_5553delCCTAC NP_001394566.1:p.Tyr1851Aspfs frameshift NM_001407638.1:c.5549_5553delCCTAC NP_001394567.1:p.Tyr1851Aspfs frameshift NM_001407639.1:c.5549_5553delCCTAC NP_001394568.1:p.Tyr1851Aspfs frameshift NM_001407640.1:c.5549_5553delCCTAC NP_001394569.1:p.Tyr1851Aspfs frameshift NM_001407641.1:c.5549_5553delCCTAC NP_001394570.1:p.Tyr1851Aspfs frameshift NM_001407642.1:c.5549_5553delCCTAC NP_001394571.1:p.Tyr1851Aspfs frameshift NM_001407644.1:c.5546_5550delCCTAC NP_001394573.1:p.Tyr1850Aspfs frameshift NM_001407645.1:c.5546_5550delCCTAC NP_001394574.1:p.Tyr1850Aspfs frameshift NM_001407646.1:c.5543_5547delCCTAC NP_001394575.1:p.Tyr1849Aspfs frameshift NM_001407647.1:c.5540_5544delCCTAC NP_001394576.1:p.Tyr1848Aspfs frameshift NM_001407648.1:c.5498_5502delCCTAC NP_001394577.1:p.Tyr1834Aspfs frameshift NM_001407649.1:c.5495_5499delCCTAC NP_001394578.1:p.Tyr1833Aspfs frameshift NM_001407652.1:c.5477_5481delCCTAC NP_001394581.1:p.Tyr1827Aspfs frameshift NM_001407653.1:c.5477_5481delCCTAC NP_001394582.1:p.Tyr1827Aspfs frameshift NM_001407654.1:c.5477_5481delCCTAC NP_001394583.1:p.Tyr1827Aspfs frameshift NM_001407655.1:c.5477_5481delCCTAC NP_001394584.1:p.Tyr1827Aspfs frameshift NM_001407656.1:c.5474_5478delCCTAC NP_001394585.1:p.Tyr1826Aspfs frameshift NM_001407657.1:c.5474_5478delCCTAC NP_001394586.1:p.Tyr1826Aspfs frameshift NM_001407658.1:c.5474_5478delCCTAC NP_001394587.1:p.Tyr1826Aspfs frameshift NM_001407659.1:c.5471_5475delCCTAC NP_001394588.1:p.Tyr1825Aspfs frameshift NM_001407660.1:c.5471_5475delCCTAC NP_001394589.1:p.Tyr1825Aspfs frameshift NM_001407661.1:c.5471_5475delCCTAC NP_001394590.1:p.Tyr1825Aspfs frameshift NM_001407662.1:c.5471_5475delCCTAC NP_001394591.1:p.Tyr1825Aspfs frameshift NM_001407663.1:c.5471_5475delCCTAC NP_001394592.1:p.Tyr1825Aspfs frameshift NM_001407664.1:c.5432_5436delCCTAC NP_001394593.1:p.Tyr1812Aspfs frameshift NM_001407665.1:c.5432_5436delCCTAC NP_001394594.1:p.Tyr1812Aspfs frameshift NM_001407666.1:c.5432_5436delCCTAC NP_001394595.1:p.Tyr1812Aspfs frameshift NM_001407667.1:c.5432_5436delCCTAC NP_001394596.1:p.Tyr1812Aspfs frameshift NM_001407668.1:c.5432_5436delCCTAC NP_001394597.1:p.Tyr1812Aspfs frameshift NM_001407669.1:c.5432_5436delCCTAC NP_001394598.1:p.Tyr1812Aspfs frameshift NM_001407670.1:c.5429_5433delCCTAC NP_001394599.1:p.Tyr1811Aspfs frameshift NM_001407671.1:c.5429_5433delCCTAC NP_001394600.1:p.Tyr1811Aspfs frameshift NM_001407672.1:c.5429_5433delCCTAC NP_001394601.1:p.Tyr1811Aspfs frameshift NM_001407673.1:c.5429_5433delCCTAC NP_001394602.1:p.Tyr1811Aspfs frameshift NM_001407674.1:c.5429_5433delCCTAC NP_001394603.1:p.Tyr1811Aspfs frameshift NM_001407675.1:c.5429_5433delCCTAC NP_001394604.1:p.Tyr1811Aspfs frameshift NM_001407676.1:c.5429_5433delCCTAC NP_001394605.1:p.Tyr1811Aspfs frameshift NM_001407677.1:c.5429_5433delCCTAC NP_001394606.1:p.Tyr1811Aspfs frameshift NM_001407678.1:c.5429_5433delCCTAC NP_001394607.1:p.Tyr1811Aspfs frameshift NM_001407679.1:c.5429_5433delCCTAC NP_001394608.1:p.Tyr1811Aspfs frameshift NM_001407680.1:c.5429_5433delCCTAC NP_001394609.1:p.Tyr1811Aspfs frameshift NM_001407681.1:c.5426_5430delCCTAC NP_001394610.1:p.Tyr1810Aspfs frameshift NM_001407682.1:c.5426_5430delCCTAC NP_001394611.1:p.Tyr1810Aspfs frameshift NM_001407683.1:c.5426_5430delCCTAC NP_001394612.1:p.Tyr1810Aspfs frameshift NM_001407684.1:c.5426_5430delCCTAC NP_001394613.1:p.Tyr1810Aspfs frameshift NM_001407685.1:c.5426_5430delCCTAC NP_001394614.1:p.Tyr1810Aspfs frameshift NM_001407686.1:c.5426_5430delCCTAC NP_001394615.1:p.Tyr1810Aspfs frameshift NM_001407687.1:c.5426_5430delCCTAC NP_001394616.1:p.Tyr1810Aspfs frameshift NM_001407688.1:c.5426_5430delCCTAC NP_001394617.1:p.Tyr1810Aspfs frameshift NM_001407689.1:c.5426_5430delCCTAC NP_001394618.1:p.Tyr1810Aspfs frameshift NM_001407690.1:c.5423_5427delCCTAC NP_001394619.1:p.Tyr1809Aspfs frameshift NM_001407691.1:c.5423_5427delCCTAC NP_001394620.1:p.Tyr1809Aspfs frameshift NM_001407692.1:c.5414_5418delCCTAC NP_001394621.1:p.Tyr1806Aspfs frameshift NM_001407694.1:c.5414_5418delCCTAC NP_001394623.1:p.Tyr1806Aspfs frameshift NM_001407695.1:c.5414_5418delCCTAC NP_001394624.1:p.Tyr1806Aspfs frameshift NM_001407696.1:c.5414_5418delCCTAC NP_001394625.1:p.Tyr1806Aspfs frameshift NM_001407697.1:c.5414_5418delCCTAC NP_001394626.1:p.Tyr1806Aspfs frameshift NM_001407698.1:c.5414_5418delCCTAC NP_001394627.1:p.Tyr1806Aspfs frameshift NM_001407724.1:c.5414_5418delCCTAC NP_001394653.1:p.Tyr1806Aspfs frameshift NM_001407725.1:c.5414_5418delCCTAC NP_001394654.1:p.Tyr1806Aspfs frameshift NM_001407726.1:c.5414_5418delCCTAC NP_001394655.1:p.Tyr1806Aspfs frameshift NM_001407727.1:c.5414_5418delCCTAC NP_001394656.1:p.Tyr1806Aspfs frameshift NM_001407728.1:c.5414_5418delCCTAC NP_001394657.1:p.Tyr1806Aspfs frameshift NM_001407729.1:c.5414_5418delCCTAC NP_001394658.1:p.Tyr1806Aspfs frameshift NM_001407730.1:c.5414_5418delCCTAC NP_001394659.1:p.Tyr1806Aspfs frameshift NM_001407731.1:c.5414_5418delCCTAC NP_001394660.1:p.Tyr1806Aspfs frameshift NM_001407732.1:c.5411_5415delCCTAC NP_001394661.1:p.Tyr1805Aspfs frameshift NM_001407733.1:c.5411_5415delCCTAC NP_001394662.1:p.Tyr1805Aspfs frameshift NM_001407734.1:c.5411_5415delCCTAC NP_001394663.1:p.Tyr1805Aspfs frameshift NM_001407735.1:c.5411_5415delCCTAC NP_001394664.1:p.Tyr1805Aspfs frameshift NM_001407736.1:c.5411_5415delCCTAC NP_001394665.1:p.Tyr1805Aspfs frameshift NM_001407737.1:c.5411_5415delCCTAC NP_001394666.1:p.Tyr1805Aspfs frameshift NM_001407738.1:c.5411_5415delCCTAC NP_001394667.1:p.Tyr1805Aspfs frameshift NM_001407739.1:c.5411_5415delCCTAC NP_001394668.1:p.Tyr1805Aspfs frameshift NM_001407740.1:c.5411_5415delCCTAC NP_001394669.1:p.Tyr1805Aspfs frameshift NM_001407741.1:c.5411_5415delCCTAC NP_001394670.1:p.Tyr1805Aspfs frameshift NM_001407742.1:c.5411_5415delCCTAC NP_001394671.1:p.Tyr1805Aspfs frameshift NM_001407743.1:c.5411_5415delCCTAC NP_001394672.1:p.Tyr1805Aspfs frameshift NM_001407744.1:c.5411_5415delCCTAC NP_001394673.1:p.Tyr1805Aspfs frameshift NM_001407745.1:c.5411_5415delCCTAC NP_001394674.1:p.Tyr1805Aspfs frameshift NM_001407746.1:c.5411_5415delCCTAC NP_001394675.1:p.Tyr1805Aspfs frameshift NM_001407747.1:c.5411_5415delCCTAC NP_001394676.1:p.Tyr1805Aspfs frameshift NM_001407748.1:c.5411_5415delCCTAC NP_001394677.1:p.Tyr1805Aspfs frameshift NM_001407749.1:c.5411_5415delCCTAC NP_001394678.1:p.Tyr1805Aspfs frameshift NM_001407750.1:c.5411_5415delCCTAC NP_001394679.1:p.Tyr1805Aspfs frameshift NM_001407751.1:c.5411_5415delCCTAC NP_001394680.1:p.Tyr1805Aspfs frameshift NM_001407752.1:c.5411_5415delCCTAC NP_001394681.1:p.Tyr1805Aspfs frameshift NM_001407838.1:c.5408_5412delCCTAC NP_001394767.1:p.Tyr1804Aspfs frameshift NM_001407839.1:c.5408_5412delCCTAC NP_001394768.1:p.Tyr1804Aspfs frameshift NM_001407841.1:c.5408_5412delCCTAC NP_001394770.1:p.Tyr1804Aspfs frameshift NM_001407842.1:c.5408_5412delCCTAC NP_001394771.1:p.Tyr1804Aspfs frameshift NM_001407843.1:c.5408_5412delCCTAC NP_001394772.1:p.Tyr1804Aspfs frameshift NM_001407844.1:c.5408_5412delCCTAC NP_001394773.1:p.Tyr1804Aspfs frameshift NM_001407845.1:c.5408_5412delCCTAC NP_001394774.1:p.Tyr1804Aspfs frameshift NM_001407846.1:c.5408_5412delCCTAC NP_001394775.1:p.Tyr1804Aspfs frameshift NM_001407847.1:c.5408_5412delCCTAC NP_001394776.1:p.Tyr1804Aspfs frameshift NM_001407848.1:c.5408_5412delCCTAC NP_001394777.1:p.Tyr1804Aspfs frameshift NM_001407849.1:c.5408_5412delCCTAC NP_001394778.1:p.Tyr1804Aspfs frameshift NM_001407850.1:c.5408_5412delCCTAC NP_001394779.1:p.Tyr1804Aspfs frameshift NM_001407851.1:c.5408_5412delCCTAC NP_001394780.1:p.Tyr1804Aspfs frameshift NM_001407852.1:c.5408_5412delCCTAC NP_001394781.1:p.Tyr1804Aspfs frameshift NM_001407853.1:c.5408_5412delCCTAC NP_001394782.1:p.Tyr1804Aspfs frameshift NM_001407854.1:c.*69_*73delCCTAC NM_001407858.1:c.*69_*73delCCTAC NM_001407859.1:c.*69_*73delCCTAC NM_001407860.1:c.*69_*73delCCTAC NM_001407861.1:c.*69_*73delCCTAC NM_001407862.1:c.5354_5358delCCTAC NP_001394791.1:p.Tyr1786Aspfs frameshift NM_001407863.1:c.5351_5355delCCTAC NP_001394792.1:p.Tyr1785Aspfs frameshift NM_001407874.1:c.5348_5352delCCTAC NP_001394803.1:p.Tyr1784Aspfs frameshift NM_001407875.1:c.5348_5352delCCTAC NP_001394804.1:p.Tyr1784Aspfs frameshift NM_001407879.1:c.5345_5349delCCTAC NP_001394808.1:p.Tyr1783Aspfs frameshift NM_001407881.1:c.5345_5349delCCTAC NP_001394810.1:p.Tyr1783Aspfs frameshift NM_001407882.1:c.5345_5349delCCTAC NP_001394811.1:p.Tyr1783Aspfs frameshift NM_001407884.1:c.5345_5349delCCTAC NP_001394813.1:p.Tyr1783Aspfs frameshift NM_001407885.1:c.5345_5349delCCTAC NP_001394814.1:p.Tyr1783Aspfs frameshift NM_001407886.1:c.5345_5349delCCTAC NP_001394815.1:p.Tyr1783Aspfs frameshift NM_001407887.1:c.5345_5349delCCTAC NP_001394816.1:p.Tyr1783Aspfs frameshift NM_001407889.1:c.5345_5349delCCTAC NP_001394818.1:p.Tyr1783Aspfs frameshift NM_001407894.1:c.5342_5346delCCTAC NP_001394823.1:p.Tyr1782Aspfs frameshift NM_001407895.1:c.5342_5346delCCTAC NP_001394824.1:p.Tyr1782Aspfs frameshift NM_001407896.1:c.5342_5346delCCTAC NP_001394825.1:p.Tyr1782Aspfs frameshift NM_001407897.1:c.5342_5346delCCTAC NP_001394826.1:p.Tyr1782Aspfs frameshift NM_001407898.1:c.5342_5346delCCTAC NP_001394827.1:p.Tyr1782Aspfs frameshift NM_001407899.1:c.5342_5346delCCTAC NP_001394828.1:p.Tyr1782Aspfs frameshift NM_001407900.1:c.5342_5346delCCTAC NP_001394829.1:p.Tyr1782Aspfs frameshift NM_001407902.1:c.5342_5346delCCTAC NP_001394831.1:p.Tyr1782Aspfs frameshift NM_001407904.1:c.5342_5346delCCTAC NP_001394833.1:p.Tyr1782Aspfs frameshift NM_001407906.1:c.5342_5346delCCTAC NP_001394835.1:p.Tyr1782Aspfs frameshift NM_001407907.1:c.5342_5346delCCTAC NP_001394836.1:p.Tyr1782Aspfs frameshift NM_001407908.1:c.5342_5346delCCTAC NP_001394837.1:p.Tyr1782Aspfs frameshift NM_001407909.1:c.5342_5346delCCTAC NP_001394838.1:p.Tyr1782Aspfs frameshift NM_001407910.1:c.5342_5346delCCTAC NP_001394839.1:p.Tyr1782Aspfs frameshift NM_001407915.1:c.5339_5343delCCTAC NP_001394844.1:p.Tyr1781Aspfs frameshift NM_001407916.1:c.5339_5343delCCTAC NP_001394845.1:p.Tyr1781Aspfs frameshift NM_001407917.1:c.5339_5343delCCTAC NP_001394846.1:p.Tyr1781Aspfs frameshift NM_001407918.1:c.5339_5343delCCTAC NP_001394847.1:p.Tyr1781Aspfs frameshift NM_001407919.1:c.5303_5307delCCTAC NP_001394848.1:p.Tyr1769Aspfs frameshift NM_001407920.1:c.5291_5295delCCTAC NP_001394849.1:p.Tyr1765Aspfs frameshift NM_001407921.1:c.5291_5295delCCTAC NP_001394850.1:p.Tyr1765Aspfs frameshift NM_001407922.1:c.5291_5295delCCTAC NP_001394851.1:p.Tyr1765Aspfs frameshift NM_001407923.1:c.5291_5295delCCTAC NP_001394852.1:p.Tyr1765Aspfs frameshift NM_001407924.1:c.5291_5295delCCTAC NP_001394853.1:p.Tyr1765Aspfs frameshift NM_001407925.1:c.5291_5295delCCTAC NP_001394854.1:p.Tyr1765Aspfs frameshift NM_001407926.1:c.5291_5295delCCTAC NP_001394855.1:p.Tyr1765Aspfs frameshift NM_001407927.1:c.5288_5292delCCTAC NP_001394856.1:p.Tyr1764Aspfs frameshift NM_001407928.1:c.5288_5292delCCTAC NP_001394857.1:p.Tyr1764Aspfs frameshift NM_001407929.1:c.5288_5292delCCTAC NP_001394858.1:p.Tyr1764Aspfs frameshift NM_001407930.1:c.5288_5292delCCTAC NP_001394859.1:p.Tyr1764Aspfs frameshift NM_001407931.1:c.5288_5292delCCTAC NP_001394860.1:p.Tyr1764Aspfs frameshift NM_001407932.1:c.5288_5292delCCTAC NP_001394861.1:p.Tyr1764Aspfs frameshift NM_001407933.1:c.5288_5292delCCTAC NP_001394862.1:p.Tyr1764Aspfs frameshift NM_001407934.1:c.5285_5289delCCTAC NP_001394863.1:p.Tyr1763Aspfs frameshift NM_001407935.1:c.5285_5289delCCTAC NP_001394864.1:p.Tyr1763Aspfs frameshift NM_001407936.1:c.5285_5289delCCTAC NP_001394865.1:p.Tyr1763Aspfs frameshift NM_001407937.1:c.*69_*73delCCTAC NM_001407938.1:c.*69_*73delCCTAC NM_001407939.1:c.*69_*73delCCTAC NM_001407940.1:c.*69_*73delCCTAC NM_001407941.1:c.*69_*73delCCTAC NM_001407942.1:c.*69_*73delCCTAC NM_001407943.1:c.*69_*73delCCTAC NM_001407944.1:c.*69_*73delCCTAC NM_001407945.1:c.*69_*73delCCTAC NM_001407946.1:c.5222_5226delCCTAC NP_001394875.1:p.Tyr1742Aspfs frameshift NM_001407947.1:c.5222_5226delCCTAC NP_001394876.1:p.Tyr1742Aspfs frameshift NM_001407948.1:c.5222_5226delCCTAC NP_001394877.1:p.Tyr1742Aspfs frameshift NM_001407949.1:c.5222_5226delCCTAC NP_001394878.1:p.Tyr1742Aspfs frameshift NM_001407950.1:c.5219_5223delCCTAC NP_001394879.1:p.Tyr1741Aspfs frameshift NM_001407951.1:c.5219_5223delCCTAC NP_001394880.1:p.Tyr1741Aspfs frameshift NM_001407952.1:c.5219_5223delCCTAC NP_001394881.1:p.Tyr1741Aspfs frameshift NM_001407953.1:c.5219_5223delCCTAC NP_001394882.1:p.Tyr1741Aspfs frameshift NM_001407954.1:c.5219_5223delCCTAC NP_001394883.1:p.Tyr1741Aspfs frameshift NM_001407955.1:c.5219_5223delCCTAC NP_001394884.1:p.Tyr1741Aspfs frameshift NM_001407956.1:c.5216_5220delCCTAC NP_001394885.1:p.Tyr1740Aspfs frameshift NM_001407957.1:c.5216_5220delCCTAC NP_001394886.1:p.Tyr1740Aspfs frameshift NM_001407958.1:c.5216_5220delCCTAC NP_001394887.1:p.Tyr1740Aspfs frameshift NM_001407959.1:c.5174_5178delCCTAC NP_001394888.1:p.Tyr1726Aspfs frameshift NM_001407960.1:c.5171_5175delCCTAC NP_001394889.1:p.Tyr1725Aspfs frameshift NM_001407962.1:c.5171_5175delCCTAC NP_001394891.1:p.Tyr1725Aspfs frameshift NM_001407963.1:c.5168_5172delCCTAC NP_001394892.1:p.Tyr1724Aspfs frameshift NM_001407964.1:c.5093_5097delCCTAC NP_001394893.1:p.Tyr1699Aspfs frameshift NM_001407965.1:c.5048_5052delCCTAC NP_001394894.1:p.Tyr1684Aspfs frameshift NM_001407966.1:c.4667_4671delCCTAC NP_001394895.1:p.Tyr1557Aspfs frameshift NM_001407967.1:c.4664_4668delCCTAC NP_001394896.1:p.Tyr1556Aspfs frameshift NM_001407968.1:c.2951_2955delCCTAC NP_001394897.1:p.Tyr985Aspfs frameshift NM_001407969.1:c.2948_2952delCCTAC NP_001394898.1:p.Tyr984Aspfs frameshift NM_001407970.1:c.2312_2316delCCTAC NP_001394899.1:p.Tyr772Aspfs frameshift NM_001407971.1:c.2312_2316delCCTAC NP_001394900.1:p.Tyr772Aspfs frameshift NM_001407972.1:c.2309_2313delCCTAC NP_001394901.1:p.Tyr771Aspfs frameshift NM_001407973.1:c.2246_2250delCCTAC NP_001394902.1:p.Tyr750Aspfs frameshift NM_001407974.1:c.2246_2250delCCTAC NP_001394903.1:p.Tyr750Aspfs frameshift NM_001407975.1:c.2246_2250delCCTAC NP_001394904.1:p.Tyr750Aspfs frameshift NM_001407976.1:c.2246_2250delCCTAC NP_001394905.1:p.Tyr750Aspfs frameshift NM_001407977.1:c.2246_2250delCCTAC NP_001394906.1:p.Tyr750Aspfs frameshift NM_001407978.1:c.2246_2250delCCTAC NP_001394907.1:p.Tyr750Aspfs frameshift NM_001407979.1:c.2243_2247delCCTAC NP_001394908.1:p.Tyr749Aspfs frameshift NM_001407980.1:c.2243_2247delCCTAC NP_001394909.1:p.Tyr749Aspfs frameshift NM_001407981.1:c.2243_2247delCCTAC NP_001394910.1:p.Tyr749Aspfs frameshift NM_001407982.1:c.2243_2247delCCTAC NP_001394911.1:p.Tyr749Aspfs frameshift NM_001407983.1:c.2243_2247delCCTAC NP_001394912.1:p.Tyr749Aspfs frameshift NM_001407984.1:c.2243_2247delCCTAC NP_001394913.1:p.Tyr749Aspfs frameshift NM_001407985.1:c.2243_2247delCCTAC NP_001394914.1:p.Tyr749Aspfs frameshift NM_001407986.1:c.2243_2247delCCTAC NP_001394915.1:p.Tyr749Aspfs frameshift NM_001407990.1:c.2243_2247delCCTAC NP_001394919.1:p.Tyr749Aspfs frameshift NM_001407991.1:c.2243_2247delCCTAC NP_001394920.1:p.Tyr749Aspfs frameshift NM_001407992.1:c.2243_2247delCCTAC NP_001394921.1:p.Tyr749Aspfs frameshift NM_001407993.1:c.2243_2247delCCTAC NP_001394922.1:p.Tyr749Aspfs frameshift NM_001408392.1:c.2240_2244delCCTAC NP_001395321.1:p.Tyr748Aspfs frameshift NM_001408396.1:c.2240_2244delCCTAC NP_001395325.1:p.Tyr748Aspfs frameshift NM_001408397.1:c.2240_2244delCCTAC NP_001395326.1:p.Tyr748Aspfs frameshift NM_001408398.1:c.2240_2244delCCTAC NP_001395327.1:p.Tyr748Aspfs frameshift NM_001408399.1:c.2240_2244delCCTAC NP_001395328.1:p.Tyr748Aspfs frameshift NM_001408400.1:c.2240_2244delCCTAC NP_001395329.1:p.Tyr748Aspfs frameshift NM_001408401.1:c.2240_2244delCCTAC NP_001395330.1:p.Tyr748Aspfs frameshift NM_001408402.1:c.2240_2244delCCTAC NP_001395331.1:p.Tyr748Aspfs frameshift NM_001408403.1:c.2240_2244delCCTAC NP_001395332.1:p.Tyr748Aspfs frameshift NM_001408404.1:c.2240_2244delCCTAC NP_001395333.1:p.Tyr748Aspfs frameshift NM_001408406.1:c.2237_2241delCCTAC NP_001395335.1:p.Tyr747Aspfs frameshift NM_001408407.1:c.2237_2241delCCTAC NP_001395336.1:p.Tyr747Aspfs frameshift NM_001408408.1:c.2237_2241delCCTAC NP_001395337.1:p.Tyr747Aspfs frameshift NM_001408409.1:c.2234_2238delCCTAC NP_001395338.1:p.Tyr746Aspfs frameshift NM_001408410.1:c.2171_2175delCCTAC NP_001395339.1:p.Tyr725Aspfs frameshift NM_001408411.1:c.2168_2172delCCTAC NP_001395340.1:p.Tyr724Aspfs frameshift NM_001408412.1:c.2165_2169delCCTAC NP_001395341.1:p.Tyr723Aspfs frameshift NM_001408413.1:c.2165_2169delCCTAC NP_001395342.1:p.Tyr723Aspfs frameshift NM_001408414.1:c.2165_2169delCCTAC NP_001395343.1:p.Tyr723Aspfs frameshift NM_001408415.1:c.2165_2169delCCTAC NP_001395344.1:p.Tyr723Aspfs frameshift NM_001408416.1:c.2165_2169delCCTAC NP_001395345.1:p.Tyr723Aspfs frameshift NM_001408418.1:c.2129_2133delCCTAC NP_001395347.1:p.Tyr711Aspfs frameshift NM_001408419.1:c.2129_2133delCCTAC NP_001395348.1:p.Tyr711Aspfs frameshift NM_001408420.1:c.2129_2133delCCTAC NP_001395349.1:p.Tyr711Aspfs frameshift NM_001408421.1:c.2126_2130delCCTAC NP_001395350.1:p.Tyr710Aspfs frameshift NM_001408422.1:c.2126_2130delCCTAC NP_001395351.1:p.Tyr710Aspfs frameshift NM_001408423.1:c.2126_2130delCCTAC NP_001395352.1:p.Tyr710Aspfs frameshift NM_001408424.1:c.2126_2130delCCTAC NP_001395353.1:p.Tyr710Aspfs frameshift NM_001408425.1:c.2123_2127delCCTAC NP_001395354.1:p.Tyr709Aspfs frameshift NM_001408426.1:c.2123_2127delCCTAC NP_001395355.1:p.Tyr709Aspfs frameshift NM_001408427.1:c.2123_2127delCCTAC NP_001395356.1:p.Tyr709Aspfs frameshift NM_001408428.1:c.2123_2127delCCTAC NP_001395357.1:p.Tyr709Aspfs frameshift NM_001408429.1:c.2123_2127delCCTAC NP_001395358.1:p.Tyr709Aspfs frameshift NM_001408430.1:c.2123_2127delCCTAC NP_001395359.1:p.Tyr709Aspfs frameshift NM_001408431.1:c.2123_2127delCCTAC NP_001395360.1:p.Tyr709Aspfs frameshift NM_001408432.1:c.2120_2124delCCTAC NP_001395361.1:p.Tyr708Aspfs frameshift NM_001408433.1:c.2120_2124delCCTAC NP_001395362.1:p.Tyr708Aspfs frameshift NM_001408434.1:c.2120_2124delCCTAC NP_001395363.1:p.Tyr708Aspfs frameshift NM_001408435.1:c.2120_2124delCCTAC NP_001395364.1:p.Tyr708Aspfs frameshift NM_001408436.1:c.2120_2124delCCTAC NP_001395365.1:p.Tyr708Aspfs frameshift NM_001408437.1:c.2120_2124delCCTAC NP_001395366.1:p.Tyr708Aspfs frameshift NM_001408438.1:c.2120_2124delCCTAC NP_001395367.1:p.Tyr708Aspfs frameshift NM_001408439.1:c.2120_2124delCCTAC NP_001395368.1:p.Tyr708Aspfs frameshift NM_001408440.1:c.2120_2124delCCTAC NP_001395369.1:p.Tyr708Aspfs frameshift NM_001408441.1:c.2120_2124delCCTAC NP_001395370.1:p.Tyr708Aspfs frameshift NM_001408442.1:c.2120_2124delCCTAC NP_001395371.1:p.Tyr708Aspfs frameshift NM_001408443.1:c.2120_2124delCCTAC NP_001395372.1:p.Tyr708Aspfs frameshift NM_001408444.1:c.2120_2124delCCTAC NP_001395373.1:p.Tyr708Aspfs frameshift NM_001408445.1:c.2117_2121delCCTAC NP_001395374.1:p.Tyr707Aspfs frameshift NM_001408446.1:c.2117_2121delCCTAC NP_001395375.1:p.Tyr707Aspfs frameshift NM_001408447.1:c.2117_2121delCCTAC NP_001395376.1:p.Tyr707Aspfs frameshift NM_001408448.1:c.2117_2121delCCTAC NP_001395377.1:p.Tyr707Aspfs frameshift NM_001408450.1:c.2117_2121delCCTAC NP_001395379.1:p.Tyr707Aspfs frameshift NM_001408451.1:c.2111_2115delCCTAC NP_001395380.1:p.Tyr705Aspfs frameshift NM_001408452.1:c.2105_2109delCCTAC NP_001395381.1:p.Tyr703Aspfs frameshift NM_001408453.1:c.2105_2109delCCTAC NP_001395382.1:p.Tyr703Aspfs frameshift NM_001408454.1:c.2105_2109delCCTAC NP_001395383.1:p.Tyr703Aspfs frameshift NM_001408455.1:c.2105_2109delCCTAC NP_001395384.1:p.Tyr703Aspfs frameshift NM_001408456.1:c.2105_2109delCCTAC NP_001395385.1:p.Tyr703Aspfs frameshift NM_001408457.1:c.2105_2109delCCTAC NP_001395386.1:p.Tyr703Aspfs frameshift NM_001408458.1:c.2102_2106delCCTAC NP_001395387.1:p.Tyr702Aspfs frameshift NM_001408459.1:c.2102_2106delCCTAC NP_001395388.1:p.Tyr702Aspfs frameshift NM_001408460.1:c.2102_2106delCCTAC NP_001395389.1:p.Tyr702Aspfs frameshift NM_001408461.1:c.2102_2106delCCTAC NP_001395390.1:p.Tyr702Aspfs frameshift NM_001408462.1:c.2102_2106delCCTAC NP_001395391.1:p.Tyr702Aspfs frameshift NM_001408463.1:c.2102_2106delCCTAC NP_001395392.1:p.Tyr702Aspfs frameshift NM_001408464.1:c.2102_2106delCCTAC NP_001395393.1:p.Tyr702Aspfs frameshift NM_001408465.1:c.2102_2106delCCTAC NP_001395394.1:p.Tyr702Aspfs frameshift NM_001408466.1:c.2102_2106delCCTAC NP_001395395.1:p.Tyr702Aspfs frameshift NM_001408467.1:c.2102_2106delCCTAC NP_001395396.1:p.Tyr702Aspfs frameshift NM_001408468.1:c.2099_2103delCCTAC NP_001395397.1:p.Tyr701Aspfs frameshift NM_001408469.1:c.2099_2103delCCTAC NP_001395398.1:p.Tyr701Aspfs frameshift NM_001408470.1:c.2099_2103delCCTAC NP_001395399.1:p.Tyr701Aspfs frameshift NM_001408472.1:c.*69_*73delCCTAC NM_001408473.1:c.*69_*73delCCTAC NM_001408474.1:c.2045_2049delCCTAC NP_001395403.1:p.Tyr683Aspfs frameshift NM_001408475.1:c.2042_2046delCCTAC NP_001395404.1:p.Tyr682Aspfs frameshift NM_001408476.1:c.2042_2046delCCTAC NP_001395405.1:p.Tyr682Aspfs frameshift NM_001408478.1:c.2036_2040delCCTAC NP_001395407.1:p.Tyr680Aspfs frameshift NM_001408479.1:c.2036_2040delCCTAC NP_001395408.1:p.Tyr680Aspfs frameshift NM_001408480.1:c.2036_2040delCCTAC NP_001395409.1:p.Tyr680Aspfs frameshift NM_001408481.1:c.2033_2037delCCTAC NP_001395410.1:p.Tyr679Aspfs frameshift NM_001408482.1:c.2033_2037delCCTAC NP_001395411.1:p.Tyr679Aspfs frameshift NM_001408483.1:c.2033_2037delCCTAC NP_001395412.1:p.Tyr679Aspfs frameshift NM_001408484.1:c.2033_2037delCCTAC NP_001395413.1:p.Tyr679Aspfs frameshift NM_001408485.1:c.2033_2037delCCTAC NP_001395414.1:p.Tyr679Aspfs frameshift NM_001408489.1:c.2033_2037delCCTAC NP_001395418.1:p.Tyr679Aspfs frameshift NM_001408490.1:c.2033_2037delCCTAC NP_001395419.1:p.Tyr679Aspfs frameshift NM_001408491.1:c.2033_2037delCCTAC NP_001395420.1:p.Tyr679Aspfs frameshift NM_001408492.1:c.2030_2034delCCTAC NP_001395421.1:p.Tyr678Aspfs frameshift NM_001408493.1:c.2030_2034delCCTAC NP_001395422.1:p.Tyr678Aspfs frameshift NM_001408494.1:c.2006_2010delCCTAC NP_001395423.1:p.Tyr670Aspfs frameshift NM_001408495.1:c.2000_2004delCCTAC NP_001395424.1:p.Tyr668Aspfs frameshift NM_001408496.1:c.1982_1986delCCTAC NP_001395425.1:p.Tyr662Aspfs frameshift NM_001408497.1:c.1982_1986delCCTAC NP_001395426.1:p.Tyr662Aspfs frameshift NM_001408498.1:c.1982_1986delCCTAC NP_001395427.1:p.Tyr662Aspfs frameshift NM_001408499.1:c.1982_1986delCCTAC NP_001395428.1:p.Tyr662Aspfs frameshift NM_001408500.1:c.1982_1986delCCTAC NP_001395429.1:p.Tyr662Aspfs frameshift NM_001408501.1:c.1982_1986delCCTAC NP_001395430.1:p.Tyr662Aspfs frameshift NM_001408502.1:c.1979_1983delCCTAC NP_001395431.1:p.Tyr661Aspfs frameshift NM_001408503.1:c.1979_1983delCCTAC NP_001395432.1:p.Tyr661Aspfs frameshift NM_001408504.1:c.1979_1983delCCTAC NP_001395433.1:p.Tyr661Aspfs frameshift NM_001408505.1:c.1976_1980delCCTAC NP_001395434.1:p.Tyr660Aspfs frameshift NM_001408506.1:c.1919_1923delCCTAC NP_001395435.1:p.Tyr641Aspfs frameshift NM_001408507.1:c.1916_1920delCCTAC NP_001395436.1:p.Tyr640Aspfs frameshift NM_001408508.1:c.1907_1911delCCTAC NP_001395437.1:p.Tyr637Aspfs frameshift NM_001408509.1:c.1904_1908delCCTAC NP_001395438.1:p.Tyr636Aspfs frameshift NM_001408510.1:c.1865_1869delCCTAC NP_001395439.1:p.Tyr623Aspfs frameshift NM_001408511.1:c.1862_1866delCCTAC NP_001395440.1:p.Tyr622Aspfs frameshift NM_001408512.1:c.1742_1746delCCTAC NP_001395441.1:p.Tyr582Aspfs frameshift NM_001408513.1:c.1715_1719delCCTAC NP_001395442.1:p.Tyr573Aspfs frameshift NM_001408514.1:c.1319_1323delCCTAC NP_001395443.1:p.Tyr441Aspfs frameshift NM_007294.3:c.5555_5559delCCTAC NP_009225.1:p.Tyr1853Aspfs frameshift NM_007294.3:c.5556_5560delCTACC NM_007297.4:c.5415_5419del NP_009228.2:p.Tyr1806fs frameshift NM_007298.4:c.2243_2247delCCTAC NP_009229.2:p.Tyr749Aspfs frameshift NM_007299.4:c.*70_*74del 3 prime UTR NM_007300.4:c.5619_5623del NP_009231.2:p.Tyr1874fs frameshift NM_007304.2:c.2243_2247delCCTAC NP_009235.2:p.Tyr749Aspfs frameshift NR_027676.2:n.5733_5737del non-coding transcript variant NC_000017.11:g.43045711_43045715del NC_000017.10:g.41197728_41197732del NG_005905.2:g.172270_172274del LRG_292:g.172270_172274del LRG_292t1:c.5556_5560del LRG_292p1:p.Tyr1853fs - Protein change
- Y1853fs, Y1806fs, Y1874fs, Y749fs
- Other names
- 5675del5
- Canonical SPDI
- NC_000017.11:43045709:GGTAGG: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.
-
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 |
12746 | 14510 |
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 (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257224.7 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Feb 5, 2023 | RCV001046091.7 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jun 22, 2023 | RCV003338492.1 |
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
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
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323891.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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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:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326360.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Likely pathogenic
(Feb 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001209979.4
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
This sequence change results in a frameshift in the BRCA1 gene (p.Tyr1853Aspfs*25). While this is not anticipated to result in nonsense mediated decay, it is … (more)
This sequence change results in a frameshift in the BRCA1 gene (p.Tyr1853Aspfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the BRCA1 protein and extend the protein by 13 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 266564). This variant disrupts the BRCT domain, which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While functional studies have not been performed to directly test the effect of this variant on BRCA1 protein function, this suggests that disruption of this region of the protein is causative of disease. 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. (less)
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Pathogenic
(Jun 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004058402.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The c.5556_5560delCTACC pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 5556 to … (more)
The c.5556_5560delCTACC pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 5556 to 5560, causing a translational frameshift with a predicted alternate stop codon (p.Y1853Dfs*25). This alteration occurs at the 3' terminus of theBRCA1 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by 13 amino acids. This frameshift impacts the last 11amino acids of the native protein. However, frameshifts are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 May;39:593-620). This alteration has also been reported in a patient with early onset breast cancer (Fostira F et al. J Med Genet, 2020 Jan;57:53-61). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Likely pathogenic
(Jan 12, 2022)
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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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Baylor Genetics
Accession: SCV004217005.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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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 |
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One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. | Fostira F | Journal of medical genetics | 2020 | PMID: 31300551 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. | Carvalho RS | PloS one | 2014 | PMID: 24845084 |
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
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 rs886040305 ...
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.