ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5035dup (p.Thr1679fs) (rs80359477)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000844875 SCV000930661 pathogenic Breast-ovarian cancer, familial 2 2019-07-31 no assertion criteria provided clinical testing This variant was not listed in the databases (ClinVar, BRCA-Share, ARUP, BIC). GnomAD shows no entry (very rare or private variant). This frameshift-variant in exon 11 results in a premature stop-codon. Taken together, we classify this variant as pathogenic.

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