ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9808del (p.Ala3270fs) (rs398122622)

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Total submissions: 5
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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) RCV000077051 SCV000301415 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000197732 SCV000253674 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BRCA2 gene (p.Ala3270Profs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 149 amino acids of the BRCA2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91534). A different truncation (p.Tyr3308*) that lies downstream of this variant has been determined to be pathogenic (PMID: 17026620, 22711857, 18593900, 18607349). This suggests that deletion of this region of the BRCA2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000217558 SCV000277283 pathogenic Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077051 SCV000328171 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077051 SCV000108848 pathogenic Breast-ovarian cancer, familial 2 2012-10-02 no assertion criteria provided clinical testing

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