ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3068_3071del (p.Asn1023fs) (rs1555283031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000497348 SCV000783792 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
MVZ Praenatalmedizin und Genetik Nuernberg RCV000497348 SCV000590791 pathogenic Breast-ovarian cancer, familial 2 2017-08-01 no assertion criteria provided clinical testing i.) The variant is expected to result in a frameshift with premature termination and is therefore rated pathogenic. ii.) In different databases (ClinVar, BIC, UMD, ARUP) there are similar frameshift-mutations and also nonsense mutations known in near vincinity to this cDNA-locus which are rated pathogenic.

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