ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5598dup (p.Thr1867fs)

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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 RCV003775483 SCV004640796 pathogenic Hereditary breast ovarian cancer syndrome 2023-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1867Tyrfs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1801590). This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 31214711).
Laboratory for Genotyping Development, RIKEN RCV003164625 SCV002758298 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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