ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4689G>A (p.Trp1563Ter) (rs886038108)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506415 SCV000602851 pathogenic not specified 2016-12-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241224 SCV000300778 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 RCV000698636 SCV000827316 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1563*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary breast and ovarian cancer (PMID: 29176636). ClinVar contains an entry for this variant (Variation ID: 254539). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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