ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7097dupT (p.Thr2367Aspfs) (rs786202600)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165488 SCV000216219 pathogenic Hereditary cancer-predisposing syndrome 2017-01-20 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 RCV000241189 SCV000327590 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) RCV000241189 SCV000301130 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000589089 SCV000695038 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-19 criteria provided, single submitter clinical testing Variant summary: This c.7097dupT variant causes a frameshift, which alters the proteins amino acid sequence beginning at position 2367 and leads to a premature termination codon 24 amino acid downstream. It is predicted to cause a truncated or absent protein product. Mutation taster predicts this variant to be disease-causing. The variant was not observed in the large and broad cohorts of the ExAC project or ESP. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Truncations downstream of this position have been classified as disease variants by our laboratory (e.g. c.7360delA, c.7379_7380insG, etc). One clinical lab (via ClinVar) classified this variant as pathogenic Considering all, this variant has been classified as Likely Pathogenic until additional information becomes available.
Invitae RCV000589089 SCV000758874 pathogenic Hereditary breast and ovarian cancer syndrome 2017-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2367Aspfs*25) 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 not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 185971). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758942 SCV000887901 pathogenic not provided 2015-12-21 criteria provided, single submitter clinical testing

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