For these reasons, this variant has been classified as Pathogenic. 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 creates a premature translational stop signal (p.Glu1581Leufs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4710_4740dup (p.Glu1581delinsLeuLeuTer)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(2)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
2
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4710_4740dup (p.Glu1581delinsLeuLeuTer)
Variation ID: 1410828 Accession: VCV001410828.9
- Type and length
-
Duplication, 31 bp
- Location
-
Cytogenetic: 17q21.31 17: 43071173-43071174 (GRCh38) [ NCBI UCSC ] 17: 41223190-41223191 (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 Mar 28, 2022 May 1, 2024 Jan 29, 2021 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4710_4740dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1581delinsLeuLeuTer nonsense NM_001407571.1:c.4495_4525dup NP_001394500.1:p.Glu1510Leufs frameshift NM_001407581.1:c.4774_4804dup NP_001394510.1:p.Glu1603Leufs frameshift NM_001407582.1:c.4774_4804dup NP_001394511.1:p.Glu1603Leufs frameshift NM_001407583.1:c.4771_4801dup NP_001394512.1:p.Glu1602Leufs frameshift NM_001407585.1:c.4771_4801dup NP_001394514.1:p.Glu1602Leufs frameshift NM_001407587.1:c.4771_4801dup NP_001394516.1:p.Glu1602Leufs frameshift NM_001407590.1:c.4768_4798dup NP_001394519.1:p.Glu1601Leufs frameshift NM_001407591.1:c.4768_4798dup NP_001394520.1:p.Glu1601Leufs frameshift NM_001407593.1:c.4708_4738dup NP_001394522.1:p.Glu1581Leufs frameshift NM_001407594.1:c.4708_4738dup NP_001394523.1:p.Glu1581Leufs frameshift NM_001407596.1:c.4708_4738dup NP_001394525.1:p.Glu1581Leufs frameshift NM_001407597.1:c.4708_4738dup NP_001394526.1:p.Glu1581Leufs frameshift NM_001407598.1:c.4708_4738dup NP_001394527.1:p.Glu1581Leufs frameshift NM_001407602.1:c.4708_4738dup NP_001394531.1:p.Glu1581Leufs frameshift NM_001407603.1:c.4708_4738dup NP_001394532.1:p.Glu1581Leufs frameshift NM_001407605.1:c.4708_4738dup NP_001394534.1:p.Glu1581Leufs frameshift NM_001407610.1:c.4705_4735dup NP_001394539.1:p.Glu1580Leufs frameshift NM_001407611.1:c.4705_4735dup NP_001394540.1:p.Glu1580Leufs frameshift NM_001407612.1:c.4705_4735dup NP_001394541.1:p.Glu1580Leufs frameshift NM_001407613.1:c.4705_4735dup NP_001394542.1:p.Glu1580Leufs frameshift NM_001407614.1:c.4705_4735dup NP_001394543.1:p.Glu1580Leufs frameshift NM_001407615.1:c.4705_4735dup NP_001394544.1:p.Glu1580Leufs frameshift NM_001407616.1:c.4705_4735dup NP_001394545.1:p.Glu1580Leufs frameshift NM_001407617.1:c.4705_4735dup NP_001394546.1:p.Glu1580Leufs frameshift NM_001407618.1:c.4705_4735dup NP_001394547.1:p.Glu1580Leufs frameshift NM_001407619.1:c.4705_4735dup NP_001394548.1:p.Glu1580Leufs frameshift NM_001407620.1:c.4705_4735dup NP_001394549.1:p.Glu1580Leufs frameshift NM_001407621.1:c.4705_4735dup NP_001394550.1:p.Glu1580Leufs frameshift NM_001407622.1:c.4705_4735dup NP_001394551.1:p.Glu1580Leufs frameshift NM_001407623.1:c.4705_4735dup NP_001394552.1:p.Glu1580Leufs frameshift NM_001407624.1:c.4705_4735dup NP_001394553.1:p.Glu1580Leufs frameshift NM_001407625.1:c.4705_4735dup NP_001394554.1:p.Glu1580Leufs frameshift NM_001407626.1:c.4705_4735dup NP_001394555.1:p.Glu1580Leufs frameshift NM_001407627.1:c.4702_4732dup NP_001394556.1:p.Glu1579Leufs frameshift NM_001407628.1:c.4702_4732dup NP_001394557.1:p.Glu1579Leufs frameshift NM_001407629.1:c.4702_4732dup NP_001394558.1:p.Glu1579Leufs frameshift NM_001407630.1:c.4702_4732dup NP_001394559.1:p.Glu1579Leufs frameshift NM_001407631.1:c.4702_4732dup NP_001394560.1:p.Glu1579Leufs frameshift NM_001407632.1:c.4702_4732dup NP_001394561.1:p.Glu1579Leufs frameshift NM_001407633.1:c.4702_4732dup NP_001394562.1:p.Glu1579Leufs frameshift NM_001407634.1:c.4702_4732dup NP_001394563.1:p.Glu1579Leufs frameshift NM_001407635.1:c.4702_4732dup NP_001394564.1:p.Glu1579Leufs frameshift NM_001407636.1:c.4702_4732dup NP_001394565.1:p.Glu1579Leufs frameshift NM_001407637.1:c.4702_4732dup NP_001394566.1:p.Glu1579Leufs frameshift NM_001407638.1:c.4702_4732dup NP_001394567.1:p.Glu1579Leufs frameshift NM_001407639.1:c.4702_4732dup NP_001394568.1:p.Glu1579Leufs frameshift NM_001407640.1:c.4702_4732dup NP_001394569.1:p.Glu1579Leufs frameshift NM_001407641.1:c.4702_4732dup NP_001394570.1:p.Glu1579Leufs frameshift NM_001407642.1:c.4702_4732dup NP_001394571.1:p.Glu1579Leufs frameshift NM_001407644.1:c.4699_4729dup NP_001394573.1:p.Glu1578Leufs frameshift NM_001407645.1:c.4699_4729dup NP_001394574.1:p.Glu1578Leufs frameshift NM_001407646.1:c.4696_4726dup NP_001394575.1:p.Glu1577Leufs frameshift NM_001407647.1:c.4693_4723dup NP_001394576.1:p.Glu1576Leufs frameshift NM_001407648.1:c.4651_4681dup NP_001394577.1:p.Glu1562Leufs frameshift NM_001407649.1:c.4648_4678dup NP_001394578.1:p.Glu1561Leufs frameshift NM_001407652.1:c.4708_4738dup NP_001394581.1:p.Glu1581Leufs frameshift NM_001407653.1:c.4630_4660dup NP_001394582.1:p.Glu1555Leufs frameshift NM_001407654.1:c.4630_4660dup NP_001394583.1:p.Glu1555Leufs frameshift NM_001407655.1:c.4630_4660dup NP_001394584.1:p.Glu1555Leufs frameshift NM_001407656.1:c.4627_4657dup NP_001394585.1:p.Glu1554Leufs frameshift NM_001407657.1:c.4627_4657dup NP_001394586.1:p.Glu1554Leufs frameshift NM_001407658.1:c.4627_4657dup NP_001394587.1:p.Glu1554Leufs frameshift NM_001407659.1:c.4624_4654dup NP_001394588.1:p.Glu1553Leufs frameshift NM_001407660.1:c.4624_4654dup NP_001394589.1:p.Glu1553Leufs frameshift NM_001407661.1:c.4624_4654dup NP_001394590.1:p.Glu1553Leufs frameshift NM_001407662.1:c.4624_4654dup NP_001394591.1:p.Glu1553Leufs frameshift NM_001407663.1:c.4624_4654dup NP_001394592.1:p.Glu1553Leufs frameshift NM_001407664.1:c.4585_4615dup NP_001394593.1:p.Glu1540Leufs frameshift NM_001407665.1:c.4585_4615dup NP_001394594.1:p.Glu1540Leufs frameshift NM_001407666.1:c.4585_4615dup NP_001394595.1:p.Glu1540Leufs frameshift NM_001407667.1:c.4585_4615dup NP_001394596.1:p.Glu1540Leufs frameshift NM_001407668.1:c.4585_4615dup NP_001394597.1:p.Glu1540Leufs frameshift NM_001407669.1:c.4585_4615dup NP_001394598.1:p.Glu1540Leufs frameshift NM_001407670.1:c.4582_4612dup NP_001394599.1:p.Glu1539Leufs frameshift NM_001407671.1:c.4582_4612dup NP_001394600.1:p.Glu1539Leufs frameshift NM_001407672.1:c.4582_4612dup NP_001394601.1:p.Glu1539Leufs frameshift NM_001407673.1:c.4582_4612dup NP_001394602.1:p.Glu1539Leufs frameshift NM_001407674.1:c.4582_4612dup NP_001394603.1:p.Glu1539Leufs frameshift NM_001407675.1:c.4582_4612dup NP_001394604.1:p.Glu1539Leufs frameshift NM_001407676.1:c.4582_4612dup NP_001394605.1:p.Glu1539Leufs frameshift NM_001407677.1:c.4582_4612dup NP_001394606.1:p.Glu1539Leufs frameshift NM_001407678.1:c.4582_4612dup NP_001394607.1:p.Glu1539Leufs frameshift NM_001407679.1:c.4582_4612dup NP_001394608.1:p.Glu1539Leufs frameshift NM_001407680.1:c.4582_4612dup NP_001394609.1:p.Glu1539Leufs frameshift NM_001407681.1:c.4579_4609dup NP_001394610.1:p.Glu1538Leufs frameshift NM_001407682.1:c.4579_4609dup NP_001394611.1:p.Glu1538Leufs frameshift NM_001407683.1:c.4579_4609dup NP_001394612.1:p.Glu1538Leufs frameshift NM_001407684.1:c.4708_4738dup NP_001394613.1:p.Glu1581Leufs frameshift NM_001407685.1:c.4579_4609dup NP_001394614.1:p.Glu1538Leufs frameshift NM_001407686.1:c.4579_4609dup NP_001394615.1:p.Glu1538Leufs frameshift NM_001407687.1:c.4579_4609dup NP_001394616.1:p.Glu1538Leufs frameshift NM_001407688.1:c.4579_4609dup NP_001394617.1:p.Glu1538Leufs frameshift NM_001407689.1:c.4579_4609dup NP_001394618.1:p.Glu1538Leufs frameshift NM_001407690.1:c.4576_4606dup NP_001394619.1:p.Glu1537Leufs frameshift NM_001407691.1:c.4576_4606dup NP_001394620.1:p.Glu1537Leufs frameshift NM_001407692.1:c.4567_4597dup NP_001394621.1:p.Glu1534Leufs frameshift NM_001407694.1:c.4567_4597dup NP_001394623.1:p.Glu1534Leufs frameshift NM_001407695.1:c.4567_4597dup NP_001394624.1:p.Glu1534Leufs frameshift NM_001407696.1:c.4567_4597dup NP_001394625.1:p.Glu1534Leufs frameshift NM_001407697.1:c.4567_4597dup NP_001394626.1:p.Glu1534Leufs frameshift NM_001407698.1:c.4567_4597dup NP_001394627.1:p.Glu1534Leufs frameshift NM_001407724.1:c.4567_4597dup NP_001394653.1:p.Glu1534Leufs frameshift NM_001407725.1:c.4567_4597dup NP_001394654.1:p.Glu1534Leufs frameshift NM_001407726.1:c.4567_4597dup NP_001394655.1:p.Glu1534Leufs frameshift NM_001407727.1:c.4567_4597dup NP_001394656.1:p.Glu1534Leufs frameshift NM_001407728.1:c.4567_4597dup NP_001394657.1:p.Glu1534Leufs frameshift NM_001407729.1:c.4567_4597dup NP_001394658.1:p.Glu1534Leufs frameshift NM_001407730.1:c.4567_4597dup NP_001394659.1:p.Glu1534Leufs frameshift NM_001407731.1:c.4567_4597dup NP_001394660.1:p.Glu1534Leufs frameshift NM_001407732.1:c.4564_4594dup NP_001394661.1:p.Glu1533Leufs frameshift NM_001407733.1:c.4564_4594dup NP_001394662.1:p.Glu1533Leufs frameshift NM_001407734.1:c.4564_4594dup NP_001394663.1:p.Glu1533Leufs frameshift NM_001407735.1:c.4564_4594dup NP_001394664.1:p.Glu1533Leufs frameshift NM_001407736.1:c.4564_4594dup NP_001394665.1:p.Glu1533Leufs frameshift NM_001407737.1:c.4564_4594dup NP_001394666.1:p.Glu1533Leufs frameshift NM_001407738.1:c.4564_4594dup NP_001394667.1:p.Glu1533Leufs frameshift NM_001407739.1:c.4564_4594dup NP_001394668.1:p.Glu1533Leufs frameshift NM_001407740.1:c.4564_4594dup NP_001394669.1:p.Glu1533Leufs frameshift NM_001407741.1:c.4564_4594dup NP_001394670.1:p.Glu1533Leufs frameshift NM_001407742.1:c.4564_4594dup NP_001394671.1:p.Glu1533Leufs frameshift NM_001407743.1:c.4564_4594dup NP_001394672.1:p.Glu1533Leufs frameshift NM_001407744.1:c.4564_4594dup NP_001394673.1:p.Glu1533Leufs frameshift NM_001407745.1:c.4564_4594dup NP_001394674.1:p.Glu1533Leufs frameshift NM_001407746.1:c.4564_4594dup NP_001394675.1:p.Glu1533Leufs frameshift NM_001407747.1:c.4564_4594dup NP_001394676.1:p.Glu1533Leufs frameshift NM_001407748.1:c.4564_4594dup NP_001394677.1:p.Glu1533Leufs frameshift NM_001407749.1:c.4564_4594dup NP_001394678.1:p.Glu1533Leufs frameshift NM_001407750.1:c.4564_4594dup NP_001394679.1:p.Glu1533Leufs frameshift NM_001407751.1:c.4564_4594dup NP_001394680.1:p.Glu1533Leufs frameshift NM_001407752.1:c.4564_4594dup NP_001394681.1:p.Glu1533Leufs frameshift NM_001407838.1:c.4561_4591dup NP_001394767.1:p.Glu1532Leufs frameshift NM_001407839.1:c.4561_4591dup NP_001394768.1:p.Glu1532Leufs frameshift NM_001407841.1:c.4561_4591dup NP_001394770.1:p.Glu1532Leufs frameshift NM_001407842.1:c.4561_4591dup NP_001394771.1:p.Glu1532Leufs frameshift NM_001407843.1:c.4561_4591dup NP_001394772.1:p.Glu1532Leufs frameshift NM_001407844.1:c.4561_4591dup NP_001394773.1:p.Glu1532Leufs frameshift NM_001407845.1:c.4561_4591dup NP_001394774.1:p.Glu1532Leufs frameshift NM_001407846.1:c.4561_4591dup NP_001394775.1:p.Glu1532Leufs frameshift NM_001407847.1:c.4561_4591dup NP_001394776.1:p.Glu1532Leufs frameshift NM_001407848.1:c.4561_4591dup NP_001394777.1:p.Glu1532Leufs frameshift NM_001407849.1:c.4561_4591dup NP_001394778.1:p.Glu1532Leufs frameshift NM_001407850.1:c.4561_4591dup NP_001394779.1:p.Glu1532Leufs frameshift NM_001407851.1:c.4561_4591dup NP_001394780.1:p.Glu1532Leufs frameshift NM_001407852.1:c.4561_4591dup NP_001394781.1:p.Glu1532Leufs frameshift NM_001407853.1:c.4561_4591dup NP_001394782.1:p.Glu1532Leufs frameshift NM_001407854.1:c.4708_4738dup NP_001394783.1:p.Glu1581Leufs frameshift NM_001407858.1:c.4705_4735dup NP_001394787.1:p.Glu1580Leufs frameshift NM_001407859.1:c.4705_4735dup NP_001394788.1:p.Glu1580Leufs frameshift NM_001407860.1:c.4705_4735dup NP_001394789.1:p.Glu1580Leufs frameshift NM_001407861.1:c.4702_4732dup NP_001394790.1:p.Glu1579Leufs frameshift NM_001407862.1:c.4507_4537dup NP_001394791.1:p.Glu1514Leufs frameshift NM_001407863.1:c.4582_4612dup NP_001394792.1:p.Glu1539Leufs frameshift NM_001407874.1:c.4501_4531dup NP_001394803.1:p.Glu1512Leufs frameshift NM_001407875.1:c.4501_4531dup NP_001394804.1:p.Glu1512Leufs frameshift NM_001407879.1:c.4498_4528dup NP_001394808.1:p.Glu1511Leufs frameshift NM_001407881.1:c.4498_4528dup NP_001394810.1:p.Glu1511Leufs frameshift NM_001407882.1:c.4498_4528dup NP_001394811.1:p.Glu1511Leufs frameshift NM_001407884.1:c.4498_4528dup NP_001394813.1:p.Glu1511Leufs frameshift NM_001407885.1:c.4498_4528dup NP_001394814.1:p.Glu1511Leufs frameshift NM_001407886.1:c.4498_4528dup NP_001394815.1:p.Glu1511Leufs frameshift NM_001407887.1:c.4498_4528dup NP_001394816.1:p.Glu1511Leufs frameshift NM_001407889.1:c.4498_4528dup NP_001394818.1:p.Glu1511Leufs frameshift NM_001407894.1:c.4495_4525dup NP_001394823.1:p.Glu1510Leufs frameshift NM_001407895.1:c.4495_4525dup NP_001394824.1:p.Glu1510Leufs frameshift NM_001407896.1:c.4495_4525dup NP_001394825.1:p.Glu1510Leufs frameshift NM_001407897.1:c.4495_4525dup NP_001394826.1:p.Glu1510Leufs frameshift NM_001407898.1:c.4495_4525dup NP_001394827.1:p.Glu1510Leufs frameshift NM_001407899.1:c.4495_4525dup NP_001394828.1:p.Glu1510Leufs frameshift NM_001407900.1:c.4495_4525dup NP_001394829.1:p.Glu1510Leufs frameshift NM_001407902.1:c.4495_4525dup NP_001394831.1:p.Glu1510Leufs frameshift NM_001407904.1:c.4495_4525dup NP_001394833.1:p.Glu1510Leufs frameshift NM_001407906.1:c.4495_4525dup NP_001394835.1:p.Glu1510Leufs frameshift NM_001407907.1:c.4495_4525dup NP_001394836.1:p.Glu1510Leufs frameshift NM_001407908.1:c.4495_4525dup NP_001394837.1:p.Glu1510Leufs frameshift NM_001407909.1:c.4495_4525dup NP_001394838.1:p.Glu1510Leufs frameshift NM_001407910.1:c.4495_4525dup NP_001394839.1:p.Glu1510Leufs frameshift NM_001407915.1:c.4492_4522dup NP_001394844.1:p.Glu1509Leufs frameshift NM_001407916.1:c.4492_4522dup NP_001394845.1:p.Glu1509Leufs frameshift NM_001407917.1:c.4492_4522dup NP_001394846.1:p.Glu1509Leufs frameshift NM_001407918.1:c.4492_4522dup NP_001394847.1:p.Glu1509Leufs frameshift NM_001407919.1:c.4585_4615dup NP_001394848.1:p.Glu1540Leufs frameshift NM_001407920.1:c.4444_4474dup NP_001394849.1:p.Glu1493Leufs frameshift NM_001407921.1:c.4444_4474dup NP_001394850.1:p.Glu1493Leufs frameshift NM_001407922.1:c.4444_4474dup NP_001394851.1:p.Glu1493Leufs frameshift NM_001407923.1:c.4444_4474dup NP_001394852.1:p.Glu1493Leufs frameshift NM_001407924.1:c.4444_4474dup NP_001394853.1:p.Glu1493Leufs frameshift NM_001407925.1:c.4444_4474dup NP_001394854.1:p.Glu1493Leufs frameshift NM_001407926.1:c.4444_4474dup NP_001394855.1:p.Glu1493Leufs frameshift NM_001407927.1:c.4441_4471dup NP_001394856.1:p.Glu1492Leufs frameshift NM_001407928.1:c.4441_4471dup NP_001394857.1:p.Glu1492Leufs frameshift NM_001407929.1:c.4441_4471dup NP_001394858.1:p.Glu1492Leufs frameshift NM_001407930.1:c.4441_4471dup NP_001394859.1:p.Glu1492Leufs frameshift NM_001407931.1:c.4441_4471dup NP_001394860.1:p.Glu1492Leufs frameshift NM_001407932.1:c.4441_4471dup NP_001394861.1:p.Glu1492Leufs frameshift NM_001407933.1:c.4441_4471dup NP_001394862.1:p.Glu1492Leufs frameshift NM_001407934.1:c.4438_4468dup NP_001394863.1:p.Glu1491Leufs frameshift NM_001407935.1:c.4438_4468dup NP_001394864.1:p.Glu1491Leufs frameshift NM_001407936.1:c.4438_4468dup NP_001394865.1:p.Glu1491Leufs frameshift NM_001407937.1:c.4585_4615dup NP_001394866.1:p.Glu1540Leufs frameshift NM_001407938.1:c.4585_4615dup NP_001394867.1:p.Glu1540Leufs frameshift NM_001407939.1:c.4582_4612dup NP_001394868.1:p.Glu1539Leufs frameshift NM_001407940.1:c.4582_4612dup NP_001394869.1:p.Glu1539Leufs frameshift NM_001407941.1:c.4579_4609dup NP_001394870.1:p.Glu1538Leufs frameshift NM_001407942.1:c.4567_4597dup NP_001394871.1:p.Glu1534Leufs frameshift NM_001407943.1:c.4564_4594dup NP_001394872.1:p.Glu1533Leufs frameshift NM_001407944.1:c.4564_4594dup NP_001394873.1:p.Glu1533Leufs frameshift NM_001407945.1:c.4564_4594dup NP_001394874.1:p.Glu1533Leufs frameshift NM_001407946.1:c.4375_4405dup NP_001394875.1:p.Glu1470Leufs frameshift NM_001407947.1:c.4375_4405dup NP_001394876.1:p.Glu1470Leufs frameshift NM_001407948.1:c.4375_4405dup NP_001394877.1:p.Glu1470Leufs frameshift NM_001407949.1:c.4375_4405dup NP_001394878.1:p.Glu1470Leufs frameshift NM_001407950.1:c.4372_4402dup NP_001394879.1:p.Glu1469Leufs frameshift NM_001407951.1:c.4372_4402dup NP_001394880.1:p.Glu1469Leufs frameshift NM_001407952.1:c.4372_4402dup NP_001394881.1:p.Glu1469Leufs frameshift NM_001407953.1:c.4372_4402dup NP_001394882.1:p.Glu1469Leufs frameshift NM_001407954.1:c.4372_4402dup NP_001394883.1:p.Glu1469Leufs frameshift NM_001407955.1:c.4372_4402dup NP_001394884.1:p.Glu1469Leufs frameshift NM_001407956.1:c.4369_4399dup NP_001394885.1:p.Glu1468Leufs frameshift NM_001407957.1:c.4369_4399dup NP_001394886.1:p.Glu1468Leufs frameshift NM_001407958.1:c.4369_4399dup NP_001394887.1:p.Glu1468Leufs frameshift NM_001407959.1:c.4327_4357dup NP_001394888.1:p.Glu1454Leufs frameshift NM_001407960.1:c.4324_4354dup NP_001394889.1:p.Glu1453Leufs frameshift NM_001407962.1:c.4324_4354dup NP_001394891.1:p.Glu1453Leufs frameshift NM_001407963.1:c.4321_4351dup NP_001394892.1:p.Glu1452Leufs frameshift NM_001407964.1:c.4246_4276dup NP_001394893.1:p.Glu1427Leufs frameshift NM_001407965.1:c.4201_4231dup NP_001394894.1:p.Glu1412Leufs frameshift NM_001407966.1:c.3820_3850dup NP_001394895.1:p.Glu1285Leufs frameshift NM_001407967.1:c.3817_3847dup NP_001394896.1:p.Glu1284Leufs frameshift NM_001407968.1:c.2104_2134dup NP_001394897.1:p.Glu713Leufs frameshift NM_001407969.1:c.2101_2131dup NP_001394898.1:p.Glu712Leufs frameshift NM_001407970.1:c.1465_1495dup NP_001394899.1:p.Glu500Leufs frameshift NM_001407971.1:c.1465_1495dup NP_001394900.1:p.Glu500Leufs frameshift NM_001407972.1:c.1462_1492dup NP_001394901.1:p.Glu499Leufs frameshift NM_001407973.1:c.1399_1429dup NP_001394902.1:p.Glu478Leufs frameshift NM_001407974.1:c.1399_1429dup NP_001394903.1:p.Glu478Leufs frameshift NM_001407975.1:c.1399_1429dup NP_001394904.1:p.Glu478Leufs frameshift NM_001407976.1:c.1399_1429dup NP_001394905.1:p.Glu478Leufs frameshift NM_001407977.1:c.1399_1429dup NP_001394906.1:p.Glu478Leufs frameshift NM_001407978.1:c.1399_1429dup NP_001394907.1:p.Glu478Leufs frameshift NM_001407979.1:c.1396_1426dup NP_001394908.1:p.Glu477Leufs frameshift NM_001407980.1:c.1396_1426dup NP_001394909.1:p.Glu477Leufs frameshift NM_001407981.1:c.1396_1426dup NP_001394910.1:p.Glu477Leufs frameshift NM_001407982.1:c.1396_1426dup NP_001394911.1:p.Glu477Leufs frameshift NM_001407983.1:c.1396_1426dup NP_001394912.1:p.Glu477Leufs frameshift NM_001407984.1:c.1396_1426dup NP_001394913.1:p.Glu477Leufs frameshift NM_001407985.1:c.1396_1426dup NP_001394914.1:p.Glu477Leufs frameshift NM_001407986.1:c.1396_1426dup NP_001394915.1:p.Glu477Leufs frameshift NM_001407990.1:c.1396_1426dup NP_001394919.1:p.Glu477Leufs frameshift NM_001407991.1:c.1396_1426dup NP_001394920.1:p.Glu477Leufs frameshift NM_001407992.1:c.1396_1426dup NP_001394921.1:p.Glu477Leufs frameshift NM_001407993.1:c.1396_1426dup NP_001394922.1:p.Glu477Leufs frameshift NM_001408392.1:c.1393_1423dup NP_001395321.1:p.Glu476Leufs frameshift NM_001408396.1:c.1393_1423dup NP_001395325.1:p.Glu476Leufs frameshift NM_001408397.1:c.1393_1423dup NP_001395326.1:p.Glu476Leufs frameshift NM_001408398.1:c.1393_1423dup NP_001395327.1:p.Glu476Leufs frameshift NM_001408399.1:c.1393_1423dup NP_001395328.1:p.Glu476Leufs frameshift NM_001408400.1:c.1393_1423dup NP_001395329.1:p.Glu476Leufs frameshift NM_001408401.1:c.1393_1423dup NP_001395330.1:p.Glu476Leufs frameshift NM_001408402.1:c.1393_1423dup NP_001395331.1:p.Glu476Leufs frameshift NM_001408403.1:c.1393_1423dup NP_001395332.1:p.Glu476Leufs frameshift NM_001408404.1:c.1393_1423dup NP_001395333.1:p.Glu476Leufs frameshift NM_001408406.1:c.1390_1420dup NP_001395335.1:p.Glu475Leufs frameshift NM_001408407.1:c.1390_1420dup NP_001395336.1:p.Glu475Leufs frameshift NM_001408408.1:c.1390_1420dup NP_001395337.1:p.Glu475Leufs frameshift NM_001408409.1:c.1387_1417dup NP_001395338.1:p.Glu474Leufs frameshift NM_001408410.1:c.1324_1354dup NP_001395339.1:p.Glu453Leufs frameshift NM_001408411.1:c.1321_1351dup NP_001395340.1:p.Glu452Leufs frameshift NM_001408412.1:c.1318_1348dup NP_001395341.1:p.Glu451Leufs frameshift NM_001408413.1:c.1318_1348dup NP_001395342.1:p.Glu451Leufs frameshift NM_001408414.1:c.1318_1348dup NP_001395343.1:p.Glu451Leufs frameshift NM_001408415.1:c.1318_1348dup NP_001395344.1:p.Glu451Leufs frameshift NM_001408416.1:c.1318_1348dup NP_001395345.1:p.Glu451Leufs frameshift NM_001408418.1:c.1282_1312dup NP_001395347.1:p.Glu439Leufs frameshift NM_001408419.1:c.1282_1312dup NP_001395348.1:p.Glu439Leufs frameshift NM_001408420.1:c.1282_1312dup NP_001395349.1:p.Glu439Leufs frameshift NM_001408421.1:c.1279_1309dup NP_001395350.1:p.Glu438Leufs frameshift NM_001408422.1:c.1279_1309dup NP_001395351.1:p.Glu438Leufs frameshift NM_001408423.1:c.1279_1309dup NP_001395352.1:p.Glu438Leufs frameshift NM_001408424.1:c.1279_1309dup NP_001395353.1:p.Glu438Leufs frameshift NM_001408425.1:c.1276_1306dup NP_001395354.1:p.Glu437Leufs frameshift NM_001408426.1:c.1276_1306dup NP_001395355.1:p.Glu437Leufs frameshift NM_001408427.1:c.1276_1306dup NP_001395356.1:p.Glu437Leufs frameshift NM_001408428.1:c.1276_1306dup NP_001395357.1:p.Glu437Leufs frameshift NM_001408429.1:c.1276_1306dup NP_001395358.1:p.Glu437Leufs frameshift NM_001408430.1:c.1276_1306dup NP_001395359.1:p.Glu437Leufs frameshift NM_001408431.1:c.1276_1306dup NP_001395360.1:p.Glu437Leufs frameshift NM_001408432.1:c.1273_1303dup NP_001395361.1:p.Glu436Leufs frameshift NM_001408433.1:c.1273_1303dup NP_001395362.1:p.Glu436Leufs frameshift NM_001408434.1:c.1273_1303dup NP_001395363.1:p.Glu436Leufs frameshift NM_001408435.1:c.1273_1303dup NP_001395364.1:p.Glu436Leufs frameshift NM_001408436.1:c.1273_1303dup NP_001395365.1:p.Glu436Leufs frameshift NM_001408437.1:c.1273_1303dup NP_001395366.1:p.Glu436Leufs frameshift NM_001408438.1:c.1273_1303dup NP_001395367.1:p.Glu436Leufs frameshift NM_001408439.1:c.1273_1303dup NP_001395368.1:p.Glu436Leufs frameshift NM_001408440.1:c.1273_1303dup NP_001395369.1:p.Glu436Leufs frameshift NM_001408441.1:c.1273_1303dup NP_001395370.1:p.Glu436Leufs frameshift NM_001408442.1:c.1273_1303dup NP_001395371.1:p.Glu436Leufs frameshift NM_001408443.1:c.1273_1303dup NP_001395372.1:p.Glu436Leufs frameshift NM_001408444.1:c.1273_1303dup NP_001395373.1:p.Glu436Leufs frameshift NM_001408445.1:c.1270_1300dup NP_001395374.1:p.Glu435Leufs frameshift NM_001408446.1:c.1270_1300dup NP_001395375.1:p.Glu435Leufs frameshift NM_001408447.1:c.1270_1300dup NP_001395376.1:p.Glu435Leufs frameshift NM_001408448.1:c.1270_1300dup NP_001395377.1:p.Glu435Leufs frameshift NM_001408450.1:c.1270_1300dup NP_001395379.1:p.Glu435Leufs frameshift NM_001408451.1:c.1264_1294dup NP_001395380.1:p.Glu433Leufs frameshift NM_001408452.1:c.1258_1288dup NP_001395381.1:p.Glu431Leufs frameshift NM_001408453.1:c.1258_1288dup NP_001395382.1:p.Glu431Leufs frameshift NM_001408454.1:c.1258_1288dup NP_001395383.1:p.Glu431Leufs frameshift NM_001408455.1:c.1258_1288dup NP_001395384.1:p.Glu431Leufs frameshift NM_001408456.1:c.1258_1288dup NP_001395385.1:p.Glu431Leufs frameshift NM_001408457.1:c.1258_1288dup NP_001395386.1:p.Glu431Leufs frameshift NM_001408458.1:c.1255_1285dup NP_001395387.1:p.Glu430Leufs frameshift NM_001408459.1:c.1255_1285dup NP_001395388.1:p.Glu430Leufs frameshift NM_001408460.1:c.1255_1285dup NP_001395389.1:p.Glu430Leufs frameshift NM_001408461.1:c.1255_1285dup NP_001395390.1:p.Glu430Leufs frameshift NM_001408462.1:c.1255_1285dup NP_001395391.1:p.Glu430Leufs frameshift NM_001408463.1:c.1255_1285dup NP_001395392.1:p.Glu430Leufs frameshift NM_001408464.1:c.1255_1285dup NP_001395393.1:p.Glu430Leufs frameshift NM_001408465.1:c.1255_1285dup NP_001395394.1:p.Glu430Leufs frameshift NM_001408466.1:c.1255_1285dup NP_001395395.1:p.Glu430Leufs frameshift NM_001408467.1:c.1255_1285dup NP_001395396.1:p.Glu430Leufs frameshift NM_001408468.1:c.1252_1282dup NP_001395397.1:p.Glu429Leufs frameshift NM_001408469.1:c.1252_1282dup NP_001395398.1:p.Glu429Leufs frameshift NM_001408470.1:c.1252_1282dup NP_001395399.1:p.Glu429Leufs frameshift NM_001408472.1:c.1396_1426dup NP_001395401.1:p.Glu477Leufs frameshift NM_001408473.1:c.1393_1423dup NP_001395402.1:p.Glu476Leufs frameshift NM_001408474.1:c.1198_1228dup NP_001395403.1:p.Glu411Leufs frameshift NM_001408475.1:c.1195_1225dup NP_001395404.1:p.Glu410Leufs frameshift NM_001408476.1:c.1195_1225dup NP_001395405.1:p.Glu410Leufs frameshift NM_001408478.1:c.1189_1219dup NP_001395407.1:p.Glu408Leufs frameshift NM_001408479.1:c.1189_1219dup NP_001395408.1:p.Glu408Leufs frameshift NM_001408480.1:c.1189_1219dup NP_001395409.1:p.Glu408Leufs frameshift NM_001408481.1:c.1186_1216dup NP_001395410.1:p.Glu407Leufs frameshift NM_001408482.1:c.1186_1216dup NP_001395411.1:p.Glu407Leufs frameshift NM_001408483.1:c.1186_1216dup NP_001395412.1:p.Glu407Leufs frameshift NM_001408484.1:c.1186_1216dup NP_001395413.1:p.Glu407Leufs frameshift NM_001408485.1:c.1186_1216dup NP_001395414.1:p.Glu407Leufs frameshift NM_001408489.1:c.1186_1216dup NP_001395418.1:p.Glu407Leufs frameshift NM_001408490.1:c.1186_1216dup NP_001395419.1:p.Glu407Leufs frameshift NM_001408491.1:c.1186_1216dup NP_001395420.1:p.Glu407Leufs frameshift NM_001408492.1:c.1183_1213dup NP_001395421.1:p.Glu406Leufs frameshift NM_001408493.1:c.1183_1213dup NP_001395422.1:p.Glu406Leufs frameshift NM_001408494.1:c.1159_1189dup NP_001395423.1:p.Glu398Leufs frameshift NM_001408495.1:c.1153_1183dup NP_001395424.1:p.Glu396Leufs frameshift NM_001408496.1:c.1135_1165dup NP_001395425.1:p.Glu390Leufs frameshift NM_001408497.1:c.1135_1165dup NP_001395426.1:p.Glu390Leufs frameshift NM_001408498.1:c.1135_1165dup NP_001395427.1:p.Glu390Leufs frameshift NM_001408499.1:c.1135_1165dup NP_001395428.1:p.Glu390Leufs frameshift NM_001408500.1:c.1135_1165dup NP_001395429.1:p.Glu390Leufs frameshift NM_001408501.1:c.1135_1165dup NP_001395430.1:p.Glu390Leufs frameshift NM_001408502.1:c.1132_1162dup NP_001395431.1:p.Glu389Leufs frameshift NM_001408503.1:c.1132_1162dup NP_001395432.1:p.Glu389Leufs frameshift NM_001408504.1:c.1132_1162dup NP_001395433.1:p.Glu389Leufs frameshift NM_001408505.1:c.1129_1159dup NP_001395434.1:p.Glu388Leufs frameshift NM_001408506.1:c.1072_1102dup NP_001395435.1:p.Glu369Leufs frameshift NM_001408507.1:c.1069_1099dup NP_001395436.1:p.Glu368Leufs frameshift NM_001408508.1:c.1060_1090dup NP_001395437.1:p.Glu365Leufs frameshift NM_001408509.1:c.1057_1087dup NP_001395438.1:p.Glu364Leufs frameshift NM_001408510.1:c.1018_1048dup NP_001395439.1:p.Glu351Leufs frameshift NM_001408511.1:c.1015_1045dup NP_001395440.1:p.Glu350Leufs frameshift NM_001408512.1:c.895_925dup NP_001395441.1:p.Glu310Leufs frameshift NM_001408513.1:c.868_898dup NP_001395442.1:p.Glu301Leufs frameshift NM_007294.3:c.4710_4740dupCTTCTCTGATGACCCTGAATCTGATCCTTCT NM_007297.4:c.4569_4599dup NP_009228.2:p.Glu1534delinsLeuLeuTer nonsense NM_007298.4:c.1396_1426dup NP_009229.2:p.Glu477Leufs frameshift NM_007299.4:c.1398_1428dup NP_009230.2:p.Glu477delinsLeuLeuTer nonsense NM_007300.4:c.4773_4803dup NP_009231.2:p.Glu1602delinsLeuLeuTer nonsense NM_007304.2:c.1396_1426dup NP_009235.2:p.Glu477Leufs frameshift NR_027676.2:n.4887_4917dup non-coding transcript variant NC_000017.11:g.43071176_43071206dup NC_000017.10:g.41223193_41223223dup NG_005905.2:g.146780_146810dup LRG_292:g.146780_146810dup LRG_292t1:c.4708_4738dup LRG_292p1:p.Glu1581Leufs - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071173:AGAAGGATCAGATTCAGGGTCATCAGAGAAGAG:AGAAGGATCAGATTCAGGGTCATCAGAGAAGAGAAGGATCAGATTCAGGGTCATCAGAGAAGAG
-
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 |
13041 | 14847 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Jan 29, 2021 | RCV001918690.7 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 1, 2018 | RCV002334872.2 |
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
(Jan 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002184247.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This … (more)
For these reasons, this variant has been classified as Pathogenic. 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 creates a premature translational stop signal (p.Glu1581Leufs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
|
|
|
Pathogenic
(Aug 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002637637.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4710_4740dup31 variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of CTTCTCTGATGACCCTGAATCTGATCCTTCT at nucleotide position 4710, causing a translational … (more)
The c.4710_4740dup31 variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of CTTCTCTGATGACCCTGAATCTGATCCTTCT at nucleotide position 4710, causing a translational frameshift with a predicted alternate stop codon (p.E1581Lfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
Comment:
Comment:
The c.4710_4740dup31 variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of CTTCTCTGATGACCCTGAATCTGATCCTTCT at nucleotide position 4710, causing a translational frameshift with a predicted alternate stop codon (p.E1581Lfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. 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:
For these reasons, this variant has been classified as Pathogenic. 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 creates a premature translational stop signal (p.Glu1581Leufs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Comment:
The c.4710_4740dup31 variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of CTTCTCTGATGACCCTGAATCTGATCCTTCT at nucleotide position 4710, causing a translational frameshift with a predicted alternate stop codon (p.E1581Lfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs2153881466 ...
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at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 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.