ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4318A>T (p.Lys1440Ter)

dbSNP: rs80358668
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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 RCV001384652 SCV001584224 pathogenic Hereditary breast ovarian cancer syndrome 2020-06-12 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 not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1440*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.

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