ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4675+2T>G

dbSNP: rs879255293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239340 SCV000296468 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389864 SCV001591385 pathogenic Hereditary breast ovarian cancer syndrome 2020-01-20 criteria provided, single submitter clinical testing Experimental studies have shown that a different variant at this donor site disrupts mRNA splicing (PMID: 21394826, 18489799). Disruption of this splice site has been observed in individuals with breast and/or ovarian cancer (PMID: 12491499, 21324516, 23767878, 24884479, Invitae). ClinVar contains an entry for this variant (Variation ID: 252396). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 14 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
GeneDx RCV003327390 SCV004034878 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Also known as 4794+2T>G; This variant is associated with the following publications: (PMID: 23767878, 21324516, 21394826, 24884479, 12491499, 16199547, 18489799, 20104584, 26295337, 30464253)

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