ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6690del (p.Ile2230fs)

dbSNP: rs1555284792
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227373 SCV001399726 pathogenic Hereditary breast ovarian cancer syndrome 2019-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast cancer (PMID: 28724667). This variant is also known as c.6689delT in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile2230Metfs*11) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.

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