ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)

dbSNP: rs763639231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637421 SCV000758878 pathogenic Hereditary breast ovarian cancer syndrome 2017-12-04 criteria provided, single submitter clinical testing Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu2139*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005010618 SCV005633952 likely pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 2024-03-08 criteria provided, single submitter clinical testing

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