ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9338T>C (p.Ile3113Thr) (rs770003991)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166690 SCV000217498 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000166690 SCV000684054 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Counsyl RCV000411698 SCV000489279 uncertain significance Breast-ovarian cancer, familial 2 2016-09-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496448 SCV000592277 uncertain significance not specified 2015-03-03 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735624 SCV000863762 uncertain significance Breast and/or ovarian cancer 2013-08-02 no assertion criteria provided clinical testing
Invitae RCV000168350 SCV000219039 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3113 of the BRCA2 protein (p.Ile3113Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs770003991, ExAC 0.003%) but has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 187011). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000679197 SCV000805795 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496448 SCV000587999 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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