ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)

dbSNP: rs1593903422
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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 RCV000799227 SCV000938881 pathogenic Hereditary breast ovarian cancer syndrome 2018-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn1596Ilefs*21) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast cancer (PMID: 28975465). This variant is also known as c.4786delA in the literature. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028061 SCV001190837 pathogenic Fanconi anemia complementation group D1 2020-02-05 no assertion criteria provided clinical testing

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