ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) (rs786204752)

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Total submissions: 8
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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) RCV000169607 SCV000300554 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000169607 SCV000221129 likely pathogenic Breast-ovarian cancer, familial 2 2015-02-11 criteria provided, single submitter literature only
GeneKor MSA RCV000239268 SCV000296817 pathogenic Familial cancer of breast 2020-01-01 criteria provided, single submitter clinical testing This variant is a 5 bp deletion at amino acid residue 915 of the BRCA2 gene. It results in a frame-shift creating an unrecognizable protein after amino acid 915 and a new stop codon 19 amino acid residues later, thus resulting in a truncated protein product.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000169607 SCV000326751 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000239268 SCV000541007 pathogenic Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759592 SCV000889009 pathogenic not provided 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000496389 SCV001585162 pathogenic Hereditary breast and ovarian cancer syndrome 2020-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr915Cysfs*19) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757377991, ExAC 0.009%). This variant has been observed in individual(s) with a personal or family history of breast and/or ovarian cancer (PMID: 24156927, 29446198). ClinVar contains an entry for this variant (Variation ID: 189178). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496389 SCV000587641 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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