Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs)
Germline
Reviewed by expert panel
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Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Pathogenic
for
Breast-ovarian cancer, familial, susceptibility to, 1
Classification is based on the expert panel submission
Oct 2016 by
Evidence-based Network for the Interpretation of Germline M…
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The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs)
Variation ID: 55584 Accession: VCV000055584.11
- Type and length
-
Microsatellite, 2 bp
- Location
-
Cytogenetic: 17q21.31 17: 43047659-43047660 (GRCh38) [ NCBI UCSC ] 17: 41199676-41199677 (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 May 1, 2024 Oct 18, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5450_5451del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1817fs frameshift NM_001407571.1:c.5235_5236AG[1] NP_001394500.1:p.Glu1746Glyfs frameshift NM_001407581.1:c.5514_5515AG[1] NP_001394510.1:p.Glu1839Glyfs frameshift NM_001407582.1:c.5514_5515AG[1] NP_001394511.1:p.Glu1839Glyfs frameshift NM_001407583.1:c.5511_5512AG[1] NP_001394512.1:p.Glu1838Glyfs frameshift NM_001407585.1:c.5511_5512AG[1] NP_001394514.1:p.Glu1838Glyfs frameshift NM_001407587.1:c.5511_5512AG[1] NP_001394516.1:p.Glu1838Glyfs frameshift NM_001407590.1:c.5508_5509AG[1] NP_001394519.1:p.Glu1837Glyfs frameshift NM_001407591.1:c.5508_5509AG[1] NP_001394520.1:p.Glu1837Glyfs frameshift NM_001407593.1:c.5448_5449AG[1] NP_001394522.1:p.Glu1817Glyfs frameshift NM_001407594.1:c.5448_5449AG[1] NP_001394523.1:p.Glu1817Glyfs frameshift NM_001407596.1:c.5448_5449AG[1] NP_001394525.1:p.Glu1817Glyfs frameshift NM_001407597.1:c.5448_5449AG[1] NP_001394526.1:p.Glu1817Glyfs frameshift NM_001407598.1:c.5448_5449AG[1] NP_001394527.1:p.Glu1817Glyfs frameshift NM_001407602.1:c.5448_5449AG[1] NP_001394531.1:p.Glu1817Glyfs frameshift NM_001407603.1:c.5448_5449AG[1] NP_001394532.1:p.Glu1817Glyfs frameshift NM_001407605.1:c.5448_5449AG[1] NP_001394534.1:p.Glu1817Glyfs frameshift NM_001407610.1:c.5445_5446AG[1] NP_001394539.1:p.Glu1816Glyfs frameshift NM_001407611.1:c.5445_5446AG[1] NP_001394540.1:p.Glu1816Glyfs frameshift NM_001407612.1:c.5445_5446AG[1] NP_001394541.1:p.Glu1816Glyfs frameshift NM_001407613.1:c.5445_5446AG[1] NP_001394542.1:p.Glu1816Glyfs frameshift NM_001407614.1:c.5445_5446AG[1] NP_001394543.1:p.Glu1816Glyfs frameshift NM_001407615.1:c.5445_5446AG[1] NP_001394544.1:p.Glu1816Glyfs frameshift NM_001407616.1:c.5445_5446AG[1] NP_001394545.1:p.Glu1816Glyfs frameshift NM_001407617.1:c.5445_5446AG[1] NP_001394546.1:p.Glu1816Glyfs frameshift NM_001407618.1:c.5445_5446AG[1] NP_001394547.1:p.Glu1816Glyfs frameshift NM_001407619.1:c.5445_5446AG[1] NP_001394548.1:p.Glu1816Glyfs frameshift NM_001407620.1:c.5445_5446AG[1] NP_001394549.1:p.Glu1816Glyfs frameshift NM_001407621.1:c.5445_5446AG[1] NP_001394550.1:p.Glu1816Glyfs frameshift NM_001407622.1:c.5445_5446AG[1] NP_001394551.1:p.Glu1816Glyfs frameshift NM_001407623.1:c.5445_5446AG[1] NP_001394552.1:p.Glu1816Glyfs frameshift NM_001407624.1:c.5445_5446AG[1] NP_001394553.1:p.Glu1816Glyfs frameshift NM_001407625.1:c.5445_5446AG[1] NP_001394554.1:p.Glu1816Glyfs frameshift NM_001407626.1:c.5445_5446AG[1] NP_001394555.1:p.Glu1816Glyfs frameshift NM_001407627.1:c.5442_5443AG[1] NP_001394556.1:p.Glu1815Glyfs frameshift NM_001407628.1:c.5442_5443AG[1] NP_001394557.1:p.Glu1815Glyfs frameshift NM_001407629.1:c.5442_5443AG[1] NP_001394558.1:p.Glu1815Glyfs frameshift NM_001407630.1:c.5442_5443AG[1] NP_001394559.1:p.Glu1815Glyfs frameshift NM_001407631.1:c.5442_5443AG[1] NP_001394560.1:p.Glu1815Glyfs frameshift NM_001407632.1:c.5442_5443AG[1] NP_001394561.1:p.Glu1815Glyfs frameshift NM_001407633.1:c.5442_5443AG[1] NP_001394562.1:p.Glu1815Glyfs frameshift NM_001407634.1:c.5442_5443AG[1] NP_001394563.1:p.Glu1815Glyfs frameshift NM_001407635.1:c.5442_5443AG[1] NP_001394564.1:p.Glu1815Glyfs frameshift NM_001407636.1:c.5442_5443AG[1] NP_001394565.1:p.Glu1815Glyfs frameshift NM_001407637.1:c.5442_5443AG[1] NP_001394566.1:p.Glu1815Glyfs frameshift NM_001407638.1:c.5442_5443AG[1] NP_001394567.1:p.Glu1815Glyfs frameshift NM_001407639.1:c.5442_5443AG[1] NP_001394568.1:p.Glu1815Glyfs frameshift NM_001407640.1:c.5442_5443AG[1] NP_001394569.1:p.Glu1815Glyfs frameshift NM_001407641.1:c.5442_5443AG[1] NP_001394570.1:p.Glu1815Glyfs frameshift NM_001407642.1:c.5442_5443AG[1] NP_001394571.1:p.Glu1815Glyfs frameshift NM_001407644.1:c.5439_5440AG[1] NP_001394573.1:p.Glu1814Glyfs frameshift NM_001407645.1:c.5439_5440AG[1] NP_001394574.1:p.Glu1814Glyfs frameshift NM_001407646.1:c.5436_5437AG[1] NP_001394575.1:p.Glu1813Glyfs frameshift NM_001407647.1:c.5433_5434AG[1] NP_001394576.1:p.Glu1812Glyfs frameshift NM_001407648.1:c.5391_5392AG[1] NP_001394577.1:p.Glu1798Glyfs frameshift NM_001407649.1:c.5388_5389AG[1] NP_001394578.1:p.Glu1797Glyfs frameshift NM_001407652.1:c.5370_5371AG[1] NP_001394581.1:p.Glu1791Glyfs frameshift NM_001407653.1:c.5370_5371AG[1] NP_001394582.1:p.Glu1791Glyfs frameshift NM_001407654.1:c.5370_5371AG[1] NP_001394583.1:p.Glu1791Glyfs frameshift NM_001407655.1:c.5370_5371AG[1] NP_001394584.1:p.Glu1791Glyfs frameshift NM_001407656.1:c.5367_5368AG[1] NP_001394585.1:p.Glu1790Glyfs frameshift NM_001407657.1:c.5367_5368AG[1] NP_001394586.1:p.Glu1790Glyfs frameshift NM_001407658.1:c.5367_5368AG[1] NP_001394587.1:p.Glu1790Glyfs frameshift NM_001407659.1:c.5364_5365AG[1] NP_001394588.1:p.Glu1789Glyfs frameshift NM_001407660.1:c.5364_5365AG[1] NP_001394589.1:p.Glu1789Glyfs frameshift NM_001407661.1:c.5364_5365AG[1] NP_001394590.1:p.Glu1789Glyfs frameshift NM_001407662.1:c.5364_5365AG[1] NP_001394591.1:p.Glu1789Glyfs frameshift NM_001407663.1:c.5364_5365AG[1] NP_001394592.1:p.Glu1789Glyfs frameshift NM_001407664.1:c.5325_5326AG[1] NP_001394593.1:p.Glu1776Glyfs frameshift NM_001407665.1:c.5325_5326AG[1] NP_001394594.1:p.Glu1776Glyfs frameshift NM_001407666.1:c.5325_5326AG[1] NP_001394595.1:p.Glu1776Glyfs frameshift NM_001407667.1:c.5325_5326AG[1] NP_001394596.1:p.Glu1776Glyfs frameshift NM_001407668.1:c.5325_5326AG[1] NP_001394597.1:p.Glu1776Glyfs frameshift NM_001407669.1:c.5325_5326AG[1] NP_001394598.1:p.Glu1776Glyfs frameshift NM_001407670.1:c.5322_5323AG[1] NP_001394599.1:p.Glu1775Glyfs frameshift NM_001407671.1:c.5322_5323AG[1] NP_001394600.1:p.Glu1775Glyfs frameshift NM_001407672.1:c.5322_5323AG[1] NP_001394601.1:p.Glu1775Glyfs frameshift NM_001407673.1:c.5322_5323AG[1] NP_001394602.1:p.Glu1775Glyfs frameshift NM_001407674.1:c.5322_5323AG[1] NP_001394603.1:p.Glu1775Glyfs frameshift NM_001407675.1:c.5322_5323AG[1] NP_001394604.1:p.Glu1775Glyfs frameshift NM_001407676.1:c.5322_5323AG[1] NP_001394605.1:p.Glu1775Glyfs frameshift NM_001407677.1:c.5322_5323AG[1] NP_001394606.1:p.Glu1775Glyfs frameshift NM_001407678.1:c.5322_5323AG[1] NP_001394607.1:p.Glu1775Glyfs frameshift NM_001407679.1:c.5322_5323AG[1] NP_001394608.1:p.Glu1775Glyfs frameshift NM_001407680.1:c.5322_5323AG[1] NP_001394609.1:p.Glu1775Glyfs frameshift NM_001407681.1:c.5319_5320AG[1] NP_001394610.1:p.Glu1774Glyfs frameshift NM_001407682.1:c.5319_5320AG[1] NP_001394611.1:p.Glu1774Glyfs frameshift NM_001407683.1:c.5319_5320AG[1] NP_001394612.1:p.Glu1774Glyfs frameshift NM_001407684.1:c.5319_5320AG[1] NP_001394613.1:p.Glu1774Glyfs frameshift NM_001407685.1:c.5319_5320AG[1] NP_001394614.1:p.Glu1774Glyfs frameshift NM_001407686.1:c.5319_5320AG[1] NP_001394615.1:p.Glu1774Glyfs frameshift NM_001407687.1:c.5319_5320AG[1] NP_001394616.1:p.Glu1774Glyfs frameshift NM_001407688.1:c.5319_5320AG[1] NP_001394617.1:p.Glu1774Glyfs frameshift NM_001407689.1:c.5319_5320AG[1] NP_001394618.1:p.Glu1774Glyfs frameshift NM_001407690.1:c.5316_5317AG[1] NP_001394619.1:p.Glu1773Glyfs frameshift NM_001407691.1:c.5316_5317AG[1] NP_001394620.1:p.Glu1773Glyfs frameshift NM_001407692.1:c.5307_5308AG[1] NP_001394621.1:p.Glu1770Glyfs frameshift NM_001407694.1:c.5307_5308AG[1] NP_001394623.1:p.Glu1770Glyfs frameshift NM_001407695.1:c.5307_5308AG[1] NP_001394624.1:p.Glu1770Glyfs frameshift NM_001407696.1:c.5307_5308AG[1] NP_001394625.1:p.Glu1770Glyfs frameshift NM_001407697.1:c.5307_5308AG[1] NP_001394626.1:p.Glu1770Glyfs frameshift NM_001407698.1:c.5307_5308AG[1] NP_001394627.1:p.Glu1770Glyfs frameshift NM_001407724.1:c.5307_5308AG[1] NP_001394653.1:p.Glu1770Glyfs frameshift NM_001407725.1:c.5307_5308AG[1] NP_001394654.1:p.Glu1770Glyfs frameshift NM_001407726.1:c.5307_5308AG[1] NP_001394655.1:p.Glu1770Glyfs frameshift NM_001407727.1:c.5307_5308AG[1] NP_001394656.1:p.Glu1770Glyfs frameshift NM_001407728.1:c.5307_5308AG[1] NP_001394657.1:p.Glu1770Glyfs frameshift NM_001407729.1:c.5307_5308AG[1] NP_001394658.1:p.Glu1770Glyfs frameshift NM_001407730.1:c.5307_5308AG[1] NP_001394659.1:p.Glu1770Glyfs frameshift NM_001407731.1:c.5307_5308AG[1] NP_001394660.1:p.Glu1770Glyfs frameshift NM_001407732.1:c.5304_5305AG[1] NP_001394661.1:p.Glu1769Glyfs frameshift NM_001407733.1:c.5304_5305AG[1] NP_001394662.1:p.Glu1769Glyfs frameshift NM_001407734.1:c.5304_5305AG[1] NP_001394663.1:p.Glu1769Glyfs frameshift NM_001407735.1:c.5304_5305AG[1] NP_001394664.1:p.Glu1769Glyfs frameshift NM_001407736.1:c.5304_5305AG[1] NP_001394665.1:p.Glu1769Glyfs frameshift NM_001407737.1:c.5304_5305AG[1] NP_001394666.1:p.Glu1769Glyfs frameshift NM_001407738.1:c.5304_5305AG[1] NP_001394667.1:p.Glu1769Glyfs frameshift NM_001407739.1:c.5304_5305AG[1] NP_001394668.1:p.Glu1769Glyfs frameshift NM_001407740.1:c.5304_5305AG[1] NP_001394669.1:p.Glu1769Glyfs frameshift NM_001407741.1:c.5304_5305AG[1] NP_001394670.1:p.Glu1769Glyfs frameshift NM_001407742.1:c.5304_5305AG[1] NP_001394671.1:p.Glu1769Glyfs frameshift NM_001407743.1:c.5304_5305AG[1] NP_001394672.1:p.Glu1769Glyfs frameshift NM_001407744.1:c.5304_5305AG[1] NP_001394673.1:p.Glu1769Glyfs frameshift NM_001407745.1:c.5304_5305AG[1] NP_001394674.1:p.Glu1769Glyfs frameshift NM_001407746.1:c.5304_5305AG[1] NP_001394675.1:p.Glu1769Glyfs frameshift NM_001407747.1:c.5304_5305AG[1] NP_001394676.1:p.Glu1769Glyfs frameshift NM_001407748.1:c.5304_5305AG[1] NP_001394677.1:p.Glu1769Glyfs frameshift NM_001407749.1:c.5304_5305AG[1] NP_001394678.1:p.Glu1769Glyfs frameshift NM_001407750.1:c.5304_5305AG[1] NP_001394679.1:p.Glu1769Glyfs frameshift NM_001407751.1:c.5304_5305AG[1] NP_001394680.1:p.Glu1769Glyfs frameshift NM_001407752.1:c.5304_5305AG[1] NP_001394681.1:p.Glu1769Glyfs frameshift NM_001407838.1:c.5301_5302AG[1] NP_001394767.1:p.Glu1768Glyfs frameshift NM_001407839.1:c.5301_5302AG[1] NP_001394768.1:p.Glu1768Glyfs frameshift NM_001407841.1:c.5301_5302AG[1] NP_001394770.1:p.Glu1768Glyfs frameshift NM_001407842.1:c.5301_5302AG[1] NP_001394771.1:p.Glu1768Glyfs frameshift NM_001407843.1:c.5301_5302AG[1] NP_001394772.1:p.Glu1768Glyfs frameshift NM_001407844.1:c.5301_5302AG[1] NP_001394773.1:p.Glu1768Glyfs frameshift NM_001407845.1:c.5301_5302AG[1] NP_001394774.1:p.Glu1768Glyfs frameshift NM_001407846.1:c.5301_5302AG[1] NP_001394775.1:p.Glu1768Glyfs frameshift NM_001407847.1:c.5301_5302AG[1] NP_001394776.1:p.Glu1768Glyfs frameshift NM_001407848.1:c.5301_5302AG[1] NP_001394777.1:p.Glu1768Glyfs frameshift NM_001407849.1:c.5301_5302AG[1] NP_001394778.1:p.Glu1768Glyfs frameshift NM_001407850.1:c.5301_5302AG[1] NP_001394779.1:p.Glu1768Glyfs frameshift NM_001407851.1:c.5301_5302AG[1] NP_001394780.1:p.Glu1768Glyfs frameshift NM_001407852.1:c.5301_5302AG[1] NP_001394781.1:p.Glu1768Glyfs frameshift NM_001407853.1:c.5301_5302AG[1] NP_001394782.1:p.Glu1768Glyfs frameshift NM_001407854.1:c.5374_5375AG[1] NP_001394783.1:p.Gly1793Thrfs frameshift NM_001407858.1:c.5371_5372AG[1] NP_001394787.1:p.Gly1792Thrfs frameshift NM_001407859.1:c.5371_5372AG[1] NP_001394788.1:p.Gly1792Thrfs frameshift NM_001407860.1:c.5371_5372AG[1] NP_001394789.1:p.Gly1792Thrfs frameshift NM_001407861.1:c.5368_5369AG[1] NP_001394790.1:p.Gly1791Thrfs frameshift NM_001407862.1:c.5247_5248AG[1] NP_001394791.1:p.Glu1750Glyfs frameshift NM_001407863.1:c.5244_5245AG[1] NP_001394792.1:p.Glu1749Glyfs frameshift NM_001407874.1:c.5241_5242AG[1] NP_001394803.1:p.Glu1748Glyfs frameshift NM_001407875.1:c.5241_5242AG[1] NP_001394804.1:p.Glu1748Glyfs frameshift NM_001407879.1:c.5238_5239AG[1] NP_001394808.1:p.Glu1747Glyfs frameshift NM_001407881.1:c.5238_5239AG[1] NP_001394810.1:p.Glu1747Glyfs frameshift NM_001407882.1:c.5238_5239AG[1] NP_001394811.1:p.Glu1747Glyfs frameshift NM_001407884.1:c.5238_5239AG[1] NP_001394813.1:p.Glu1747Glyfs frameshift NM_001407885.1:c.5238_5239AG[1] NP_001394814.1:p.Glu1747Glyfs frameshift NM_001407886.1:c.5238_5239AG[1] NP_001394815.1:p.Glu1747Glyfs frameshift NM_001407887.1:c.5238_5239AG[1] NP_001394816.1:p.Glu1747Glyfs frameshift NM_001407889.1:c.5238_5239AG[1] NP_001394818.1:p.Glu1747Glyfs frameshift NM_001407894.1:c.5235_5236AG[1] NP_001394823.1:p.Glu1746Glyfs frameshift NM_001407895.1:c.5235_5236AG[1] NP_001394824.1:p.Glu1746Glyfs frameshift NM_001407896.1:c.5235_5236AG[1] NP_001394825.1:p.Glu1746Glyfs frameshift NM_001407897.1:c.5235_5236AG[1] NP_001394826.1:p.Glu1746Glyfs frameshift NM_001407898.1:c.5235_5236AG[1] NP_001394827.1:p.Glu1746Glyfs frameshift NM_001407899.1:c.5235_5236AG[1] NP_001394828.1:p.Glu1746Glyfs frameshift NM_001407900.1:c.5235_5236AG[1] NP_001394829.1:p.Glu1746Glyfs frameshift NM_001407902.1:c.5235_5236AG[1] NP_001394831.1:p.Glu1746Glyfs frameshift NM_001407904.1:c.5235_5236AG[1] NP_001394833.1:p.Glu1746Glyfs frameshift NM_001407906.1:c.5235_5236AG[1] NP_001394835.1:p.Glu1746Glyfs frameshift NM_001407907.1:c.5235_5236AG[1] NP_001394836.1:p.Glu1746Glyfs frameshift NM_001407908.1:c.5235_5236AG[1] NP_001394837.1:p.Glu1746Glyfs frameshift NM_001407909.1:c.5235_5236AG[1] NP_001394838.1:p.Glu1746Glyfs frameshift NM_001407910.1:c.5235_5236AG[1] NP_001394839.1:p.Glu1746Glyfs frameshift NM_001407915.1:c.5232_5233AG[1] NP_001394844.1:p.Glu1745Glyfs frameshift NM_001407916.1:c.5232_5233AG[1] NP_001394845.1:p.Glu1745Glyfs frameshift NM_001407917.1:c.5232_5233AG[1] NP_001394846.1:p.Glu1745Glyfs frameshift NM_001407918.1:c.5232_5233AG[1] NP_001394847.1:p.Glu1745Glyfs frameshift NM_001407919.1:c.5196_5197AG[1] NP_001394848.1:p.Glu1733Glyfs frameshift NM_001407920.1:c.5184_5185AG[1] NP_001394849.1:p.Glu1729Glyfs frameshift NM_001407921.1:c.5184_5185AG[1] NP_001394850.1:p.Glu1729Glyfs frameshift NM_001407922.1:c.5184_5185AG[1] NP_001394851.1:p.Glu1729Glyfs frameshift NM_001407923.1:c.5184_5185AG[1] NP_001394852.1:p.Glu1729Glyfs frameshift NM_001407924.1:c.5184_5185AG[1] NP_001394853.1:p.Glu1729Glyfs frameshift NM_001407925.1:c.5184_5185AG[1] NP_001394854.1:p.Glu1729Glyfs frameshift NM_001407926.1:c.5184_5185AG[1] NP_001394855.1:p.Glu1729Glyfs frameshift NM_001407927.1:c.5181_5182AG[1] NP_001394856.1:p.Glu1728Glyfs frameshift NM_001407928.1:c.5181_5182AG[1] NP_001394857.1:p.Glu1728Glyfs frameshift NM_001407929.1:c.5181_5182AG[1] NP_001394858.1:p.Glu1728Glyfs frameshift NM_001407930.1:c.5181_5182AG[1] NP_001394859.1:p.Glu1728Glyfs frameshift NM_001407931.1:c.5181_5182AG[1] NP_001394860.1:p.Glu1728Glyfs frameshift NM_001407932.1:c.5181_5182AG[1] NP_001394861.1:p.Glu1728Glyfs frameshift NM_001407933.1:c.5181_5182AG[1] NP_001394862.1:p.Glu1728Glyfs frameshift NM_001407934.1:c.5178_5179AG[1] NP_001394863.1:p.Glu1727Glyfs frameshift NM_001407935.1:c.5178_5179AG[1] NP_001394864.1:p.Glu1727Glyfs frameshift NM_001407936.1:c.5178_5179AG[1] NP_001394865.1:p.Glu1727Glyfs frameshift NM_001407937.1:c.5251_5252AG[1] NP_001394866.1:p.Gly1752Thrfs frameshift NM_001407938.1:c.5251_5252AG[1] NP_001394867.1:p.Gly1752Thrfs frameshift NM_001407939.1:c.5248_5249AG[1] NP_001394868.1:p.Gly1751Thrfs frameshift NM_001407940.1:c.5248_5249AG[1] NP_001394869.1:p.Gly1751Thrfs frameshift NM_001407941.1:c.5245_5246AG[1] NP_001394870.1:p.Gly1750Thrfs frameshift NM_001407942.1:c.5233_5234AG[1] NP_001394871.1:p.Gly1746Thrfs frameshift NM_001407943.1:c.5230_5231AG[1] NP_001394872.1:p.Gly1745Thrfs frameshift NM_001407944.1:c.5230_5231AG[1] NP_001394873.1:p.Gly1745Thrfs frameshift NM_001407945.1:c.5230_5231AG[1] NP_001394874.1:p.Gly1745Thrfs frameshift NM_001407946.1:c.5115_5116AG[1] NP_001394875.1:p.Glu1706Glyfs frameshift NM_001407947.1:c.5115_5116AG[1] NP_001394876.1:p.Glu1706Glyfs frameshift NM_001407948.1:c.5115_5116AG[1] NP_001394877.1:p.Glu1706Glyfs frameshift NM_001407949.1:c.5115_5116AG[1] NP_001394878.1:p.Glu1706Glyfs frameshift NM_001407950.1:c.5112_5113AG[1] NP_001394879.1:p.Glu1705Glyfs frameshift NM_001407951.1:c.5112_5113AG[1] NP_001394880.1:p.Glu1705Glyfs frameshift NM_001407952.1:c.5112_5113AG[1] NP_001394881.1:p.Glu1705Glyfs frameshift NM_001407953.1:c.5112_5113AG[1] NP_001394882.1:p.Glu1705Glyfs frameshift NM_001407954.1:c.5112_5113AG[1] NP_001394883.1:p.Glu1705Glyfs frameshift NM_001407955.1:c.5112_5113AG[1] NP_001394884.1:p.Glu1705Glyfs frameshift NM_001407956.1:c.5109_5110AG[1] NP_001394885.1:p.Glu1704Glyfs frameshift NM_001407957.1:c.5109_5110AG[1] NP_001394886.1:p.Glu1704Glyfs frameshift NM_001407958.1:c.5109_5110AG[1] NP_001394887.1:p.Glu1704Glyfs frameshift NM_001407959.1:c.5067_5068AG[1] NP_001394888.1:p.Glu1690Glyfs frameshift NM_001407960.1:c.5064_5065AG[1] NP_001394889.1:p.Glu1689Glyfs frameshift NM_001407962.1:c.5064_5065AG[1] NP_001394891.1:p.Glu1689Glyfs frameshift NM_001407963.1:c.5061_5062AG[1] NP_001394892.1:p.Glu1688Glyfs frameshift NM_001407964.1:c.4986_4987AG[1] NP_001394893.1:p.Glu1663Glyfs frameshift NM_001407965.1:c.4941_4942AG[1] NP_001394894.1:p.Glu1648Glyfs frameshift NM_001407966.1:c.4560_4561AG[1] NP_001394895.1:p.Glu1521Glyfs frameshift NM_001407967.1:c.4557_4558AG[1] NP_001394896.1:p.Glu1520Glyfs frameshift NM_001407968.1:c.2844_2845AG[1] NP_001394897.1:p.Glu949Glyfs frameshift NM_001407969.1:c.2841_2842AG[1] NP_001394898.1:p.Glu948Glyfs frameshift NM_001407970.1:c.2205_2206AG[1] NP_001394899.1:p.Glu736Glyfs frameshift NM_001407971.1:c.2205_2206AG[1] NP_001394900.1:p.Glu736Glyfs frameshift NM_001407972.1:c.2202_2203AG[1] NP_001394901.1:p.Glu735Glyfs frameshift NM_001407973.1:c.2139_2140AG[1] NP_001394902.1:p.Glu714Glyfs frameshift NM_001407974.1:c.2139_2140AG[1] NP_001394903.1:p.Glu714Glyfs frameshift NM_001407975.1:c.2139_2140AG[1] NP_001394904.1:p.Glu714Glyfs frameshift NM_001407976.1:c.2139_2140AG[1] NP_001394905.1:p.Glu714Glyfs frameshift NM_001407977.1:c.2139_2140AG[1] NP_001394906.1:p.Glu714Glyfs frameshift NM_001407978.1:c.2139_2140AG[1] NP_001394907.1:p.Glu714Glyfs frameshift NM_001407979.1:c.2136_2137AG[1] NP_001394908.1:p.Glu713Glyfs frameshift NM_001407980.1:c.2136_2137AG[1] NP_001394909.1:p.Glu713Glyfs frameshift NM_001407981.1:c.2136_2137AG[1] NP_001394910.1:p.Glu713Glyfs frameshift NM_001407982.1:c.2136_2137AG[1] NP_001394911.1:p.Glu713Glyfs frameshift NM_001407983.1:c.2136_2137AG[1] NP_001394912.1:p.Glu713Glyfs frameshift NM_001407984.1:c.2136_2137AG[1] NP_001394913.1:p.Glu713Glyfs frameshift NM_001407985.1:c.2136_2137AG[1] NP_001394914.1:p.Glu713Glyfs frameshift NM_001407986.1:c.2136_2137AG[1] NP_001394915.1:p.Glu713Glyfs frameshift NM_001407990.1:c.2136_2137AG[1] NP_001394919.1:p.Glu713Glyfs frameshift NM_001407991.1:c.2136_2137AG[1] NP_001394920.1:p.Glu713Glyfs frameshift NM_001407992.1:c.2136_2137AG[1] NP_001394921.1:p.Glu713Glyfs frameshift NM_001407993.1:c.2136_2137AG[1] NP_001394922.1:p.Glu713Glyfs frameshift NM_001408392.1:c.2133_2134AG[1] NP_001395321.1:p.Glu712Glyfs frameshift NM_001408396.1:c.2133_2134AG[1] NP_001395325.1:p.Glu712Glyfs frameshift NM_001408397.1:c.2133_2134AG[1] NP_001395326.1:p.Glu712Glyfs frameshift NM_001408398.1:c.2133_2134AG[1] NP_001395327.1:p.Glu712Glyfs frameshift NM_001408399.1:c.2133_2134AG[1] NP_001395328.1:p.Glu712Glyfs frameshift NM_001408400.1:c.2133_2134AG[1] NP_001395329.1:p.Glu712Glyfs frameshift NM_001408401.1:c.2133_2134AG[1] NP_001395330.1:p.Glu712Glyfs frameshift NM_001408402.1:c.2133_2134AG[1] NP_001395331.1:p.Glu712Glyfs frameshift NM_001408403.1:c.2133_2134AG[1] NP_001395332.1:p.Glu712Glyfs frameshift NM_001408404.1:c.2133_2134AG[1] NP_001395333.1:p.Glu712Glyfs frameshift NM_001408406.1:c.2130_2131AG[1] NP_001395335.1:p.Glu711Glyfs frameshift NM_001408407.1:c.2130_2131AG[1] NP_001395336.1:p.Glu711Glyfs frameshift NM_001408408.1:c.2130_2131AG[1] NP_001395337.1:p.Glu711Glyfs frameshift NM_001408409.1:c.2127_2128AG[1] NP_001395338.1:p.Glu710Glyfs frameshift NM_001408410.1:c.2064_2065AG[1] NP_001395339.1:p.Glu689Glyfs frameshift NM_001408411.1:c.2061_2062AG[1] NP_001395340.1:p.Glu688Glyfs frameshift NM_001408412.1:c.2058_2059AG[1] NP_001395341.1:p.Glu687Glyfs frameshift NM_001408413.1:c.2058_2059AG[1] NP_001395342.1:p.Glu687Glyfs frameshift NM_001408414.1:c.2058_2059AG[1] NP_001395343.1:p.Glu687Glyfs frameshift NM_001408415.1:c.2058_2059AG[1] NP_001395344.1:p.Glu687Glyfs frameshift NM_001408416.1:c.2058_2059AG[1] NP_001395345.1:p.Glu687Glyfs frameshift NM_001408418.1:c.2022_2023AG[1] NP_001395347.1:p.Glu675Glyfs frameshift NM_001408419.1:c.2022_2023AG[1] NP_001395348.1:p.Glu675Glyfs frameshift NM_001408420.1:c.2022_2023AG[1] NP_001395349.1:p.Glu675Glyfs frameshift NM_001408421.1:c.2019_2020AG[1] NP_001395350.1:p.Glu674Glyfs frameshift NM_001408422.1:c.2019_2020AG[1] NP_001395351.1:p.Glu674Glyfs frameshift NM_001408423.1:c.2019_2020AG[1] NP_001395352.1:p.Glu674Glyfs frameshift NM_001408424.1:c.2019_2020AG[1] NP_001395353.1:p.Glu674Glyfs frameshift NM_001408425.1:c.2016_2017AG[1] NP_001395354.1:p.Glu673Glyfs frameshift NM_001408426.1:c.2016_2017AG[1] NP_001395355.1:p.Glu673Glyfs frameshift NM_001408427.1:c.2016_2017AG[1] NP_001395356.1:p.Glu673Glyfs frameshift NM_001408428.1:c.2016_2017AG[1] NP_001395357.1:p.Glu673Glyfs frameshift NM_001408429.1:c.2016_2017AG[1] NP_001395358.1:p.Glu673Glyfs frameshift NM_001408430.1:c.2016_2017AG[1] NP_001395359.1:p.Glu673Glyfs frameshift NM_001408431.1:c.2016_2017AG[1] NP_001395360.1:p.Glu673Glyfs frameshift NM_001408432.1:c.2013_2014AG[1] NP_001395361.1:p.Glu672Glyfs frameshift NM_001408433.1:c.2013_2014AG[1] NP_001395362.1:p.Glu672Glyfs frameshift NM_001408434.1:c.2013_2014AG[1] NP_001395363.1:p.Glu672Glyfs frameshift NM_001408435.1:c.2013_2014AG[1] NP_001395364.1:p.Glu672Glyfs frameshift NM_001408436.1:c.2013_2014AG[1] NP_001395365.1:p.Glu672Glyfs frameshift NM_001408437.1:c.2013_2014AG[1] NP_001395366.1:p.Glu672Glyfs frameshift NM_001408438.1:c.2013_2014AG[1] NP_001395367.1:p.Glu672Glyfs frameshift NM_001408439.1:c.2013_2014AG[1] NP_001395368.1:p.Glu672Glyfs frameshift NM_001408440.1:c.2013_2014AG[1] NP_001395369.1:p.Glu672Glyfs frameshift NM_001408441.1:c.2013_2014AG[1] NP_001395370.1:p.Glu672Glyfs frameshift NM_001408442.1:c.2013_2014AG[1] NP_001395371.1:p.Glu672Glyfs frameshift NM_001408443.1:c.2013_2014AG[1] NP_001395372.1:p.Glu672Glyfs frameshift NM_001408444.1:c.2013_2014AG[1] NP_001395373.1:p.Glu672Glyfs frameshift NM_001408445.1:c.2010_2011AG[1] NP_001395374.1:p.Glu671Glyfs frameshift NM_001408446.1:c.2010_2011AG[1] NP_001395375.1:p.Glu671Glyfs frameshift NM_001408447.1:c.2010_2011AG[1] NP_001395376.1:p.Glu671Glyfs frameshift NM_001408448.1:c.2010_2011AG[1] NP_001395377.1:p.Glu671Glyfs frameshift NM_001408450.1:c.2010_2011AG[1] NP_001395379.1:p.Glu671Glyfs frameshift NM_001408451.1:c.2004_2005AG[1] NP_001395380.1:p.Glu669Glyfs frameshift NM_001408452.1:c.1998_1999AG[1] NP_001395381.1:p.Glu667Glyfs frameshift NM_001408453.1:c.1998_1999AG[1] NP_001395382.1:p.Glu667Glyfs frameshift NM_001408454.1:c.1998_1999AG[1] NP_001395383.1:p.Glu667Glyfs frameshift NM_001408455.1:c.1998_1999AG[1] NP_001395384.1:p.Glu667Glyfs frameshift NM_001408456.1:c.1998_1999AG[1] NP_001395385.1:p.Glu667Glyfs frameshift NM_001408457.1:c.1998_1999AG[1] NP_001395386.1:p.Glu667Glyfs frameshift NM_001408458.1:c.1995_1996AG[1] NP_001395387.1:p.Glu666Glyfs frameshift NM_001408459.1:c.1995_1996AG[1] NP_001395388.1:p.Glu666Glyfs frameshift NM_001408460.1:c.1995_1996AG[1] NP_001395389.1:p.Glu666Glyfs frameshift NM_001408461.1:c.1995_1996AG[1] NP_001395390.1:p.Glu666Glyfs frameshift NM_001408462.1:c.1995_1996AG[1] NP_001395391.1:p.Glu666Glyfs frameshift NM_001408463.1:c.1995_1996AG[1] NP_001395392.1:p.Glu666Glyfs frameshift NM_001408464.1:c.1995_1996AG[1] NP_001395393.1:p.Glu666Glyfs frameshift NM_001408465.1:c.1995_1996AG[1] NP_001395394.1:p.Glu666Glyfs frameshift NM_001408466.1:c.1995_1996AG[1] NP_001395395.1:p.Glu666Glyfs frameshift NM_001408467.1:c.1995_1996AG[1] NP_001395396.1:p.Glu666Glyfs frameshift NM_001408468.1:c.1992_1993AG[1] NP_001395397.1:p.Glu665Glyfs frameshift NM_001408469.1:c.1992_1993AG[1] NP_001395398.1:p.Glu665Glyfs frameshift NM_001408470.1:c.1992_1993AG[1] NP_001395399.1:p.Glu665Glyfs frameshift NM_001408472.1:c.2062_2063AG[1] NP_001395401.1:p.Gly689Thrfs frameshift NM_001408473.1:c.2059_2060AG[1] NP_001395402.1:p.Gly688Thrfs frameshift NM_001408474.1:c.1938_1939AG[1] NP_001395403.1:p.Glu647Glyfs frameshift NM_001408475.1:c.1935_1936AG[1] NP_001395404.1:p.Glu646Glyfs frameshift NM_001408476.1:c.1935_1936AG[1] NP_001395405.1:p.Glu646Glyfs frameshift NM_001408478.1:c.1929_1930AG[1] NP_001395407.1:p.Glu644Glyfs frameshift NM_001408479.1:c.1929_1930AG[1] NP_001395408.1:p.Glu644Glyfs frameshift NM_001408480.1:c.1929_1930AG[1] NP_001395409.1:p.Glu644Glyfs frameshift NM_001408481.1:c.1926_1927AG[1] NP_001395410.1:p.Glu643Glyfs frameshift NM_001408482.1:c.1926_1927AG[1] NP_001395411.1:p.Glu643Glyfs frameshift NM_001408483.1:c.1926_1927AG[1] NP_001395412.1:p.Glu643Glyfs frameshift NM_001408484.1:c.1926_1927AG[1] NP_001395413.1:p.Glu643Glyfs frameshift NM_001408485.1:c.1926_1927AG[1] NP_001395414.1:p.Glu643Glyfs frameshift NM_001408489.1:c.1926_1927AG[1] NP_001395418.1:p.Glu643Glyfs frameshift NM_001408490.1:c.1926_1927AG[1] NP_001395419.1:p.Glu643Glyfs frameshift NM_001408491.1:c.1926_1927AG[1] NP_001395420.1:p.Glu643Glyfs frameshift NM_001408492.1:c.1923_1924AG[1] NP_001395421.1:p.Glu642Glyfs frameshift NM_001408493.1:c.1923_1924AG[1] NP_001395422.1:p.Glu642Glyfs frameshift NM_001408494.1:c.1899_1900AG[1] NP_001395423.1:p.Glu634Glyfs frameshift NM_001408495.1:c.1893_1894AG[1] NP_001395424.1:p.Glu632Glyfs frameshift NM_001408496.1:c.1875_1876AG[1] NP_001395425.1:p.Glu626Glyfs frameshift NM_001408497.1:c.1875_1876AG[1] NP_001395426.1:p.Glu626Glyfs frameshift NM_001408498.1:c.1875_1876AG[1] NP_001395427.1:p.Glu626Glyfs frameshift NM_001408499.1:c.1875_1876AG[1] NP_001395428.1:p.Glu626Glyfs frameshift NM_001408500.1:c.1875_1876AG[1] NP_001395429.1:p.Glu626Glyfs frameshift NM_001408501.1:c.1875_1876AG[1] NP_001395430.1:p.Glu626Glyfs frameshift NM_001408502.1:c.1872_1873AG[1] NP_001395431.1:p.Glu625Glyfs frameshift NM_001408503.1:c.1872_1873AG[1] NP_001395432.1:p.Glu625Glyfs frameshift NM_001408504.1:c.1872_1873AG[1] NP_001395433.1:p.Glu625Glyfs frameshift NM_001408505.1:c.1869_1870AG[1] NP_001395434.1:p.Glu624Glyfs frameshift NM_001408506.1:c.1812_1813AG[1] NP_001395435.1:p.Glu605Glyfs frameshift NM_001408507.1:c.1809_1810AG[1] NP_001395436.1:p.Glu604Glyfs frameshift NM_001408508.1:c.1800_1801AG[1] NP_001395437.1:p.Glu601Glyfs frameshift NM_001408509.1:c.1797_1798AG[1] NP_001395438.1:p.Glu600Glyfs frameshift NM_001408510.1:c.1758_1759AG[1] NP_001395439.1:p.Glu587Glyfs frameshift NM_001408511.1:c.1755_1756AG[1] NP_001395440.1:p.Glu586Glyfs frameshift NM_001408512.1:c.1635_1636AG[1] NP_001395441.1:p.Glu546Glyfs frameshift NM_001408513.1:c.1608_1609AG[1] NP_001395442.1:p.Glu537Glyfs frameshift NM_001408514.1:c.1212_1213AG[1] NP_001395443.1:p.Glu405Glyfs frameshift NM_007294.3:c.5450_5451delAG frameshift NM_007297.4:c.5309_5310del NP_009228.2:p.Glu1770fs frameshift NM_007298.4:c.2136_2137AG[1] NP_009229.2:p.Glu713Glyfs frameshift NM_007299.4:c.2064_2065del NP_009230.2:p.Gly689fs frameshift NM_007300.4:c.5513_5514del NP_009231.2:p.Glu1838fs frameshift NM_007304.2:c.2136_2137AG[1] NP_009235.2:p.Glu713Glyfs frameshift NR_027676.2:n.5625AG[1] non-coding transcript variant NC_000017.11:g.43047659CT[1] NC_000017.10:g.41199676CT[1] NG_005905.2:g.170322AG[1] LRG_292:g.170322AG[1] LRG_292t1:c.5448_5449AG[1] LRG_292p1:p.Glu1817Glyfs - Protein change
- E1770fs, E1817fs, G689fs, E1838fs, E713fs
- Other names
-
5569delAG
- Canonical SPDI
- NC_000017.11:43047658:CTCT:CT
-
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 |
13471 | 15364 | |
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 (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256624.13 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496780.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Nov 1, 2017 | RCV000509919.12 |
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)
C
Contributing to aggregate classification
|
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: SCV000323875.2
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)
N
Not contributing to aggregate classification
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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: SCV000326316.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Nov 01, 2017)
N
Not contributing to aggregate classification
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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: SCV000607844.5
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
The c.5450_5451delAG pathogenic mutation, located in coding exon 21 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5450 to … (more)
The c.5450_5451delAG pathogenic mutation, located in coding exon 21 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5450 to 5451, causing a translational frameshift with a predicted alternate stop codon (p.E1817Gfs*12). This mutation was previously identified in a breast and/or ovarian cancer family (Kroiss R et al. Hum. Mutat. 2005 Dec;26(6):583-9). In addition to the clinical information presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Jan 31, 2014)
N
Not contributing to aggregate classification
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587511.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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Comment:
Comment:
The c.5450_5451delAG pathogenic mutation, located in coding exon 21 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5450 to 5451, causing a translational frameshift with a predicted alternate stop codon (p.E1817Gfs*12). This mutation was previously identified in a breast and/or ovarian cancer family (Kroiss R et al. Hum. Mutat. 2005 Dec;26(6):583-9). In addition to the clinical information presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
The c.5450_5451delAG pathogenic mutation, located in coding exon 21 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5450 to 5451, causing a translational frameshift with a predicted alternate stop codon (p.E1817Gfs*12). This mutation was previously identified in a breast and/or ovarian cancer family (Kroiss R et al. Hum. Mutat. 2005 Dec;26(6):583-9). In addition to the clinical information presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. | Kroiss R | Human mutation | 2005 | PMID: 16287141 |
Text-mined citations for rs397509286 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 17, 2025
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.