ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9789_9790del (p.Asn3264fs) (rs886040851)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513587 SCV000608683 likely pathogenic not provided 2017-04-30 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257106 SCV000328168 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257106 SCV000324792 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000792005 SCV000931276 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BRCA2 gene (p.Asn3264Leufs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 155 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: 267172). This variant disrupts the C-terminus of the BRCA2 protein. Other variant(s) that disrupt this region (p.Tyr3308*) have been determined to be pathogenic (PMID: 17026620, 22711857, 18593900, 18607349). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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