ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter) (rs397508045)

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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) RCV000241373 SCV000300292 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 RCV000045785 SCV000073798 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 31 (p.Trp31*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with breast and/or ovarian cancer (PMID: 22776961, 26911350). This variant is also known as c.320G>A in the literature. A different nucleotide substitution, c.93G>A also known as c.321G>A in the literature, results in the same protein effect (p.Trp31*) and has been observed in patients affected with breast and/or ovarian cancer (PMID: 17080309, 22009639). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241373 SCV000328103 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762913 SCV000893325 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045785 SCV000587538 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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