ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3401G>C (p.Ser1134Thr) (rs398122764)

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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 RCV000132468 SCV000187562 likely benign Hereditary cancer-predisposing syndrome 2016-07-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Color RCV000132468 SCV000688801 likely benign Hereditary cancer-predisposing syndrome 2016-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000077707 SCV000785089 uncertain significance Breast-ovarian cancer, familial 2 2017-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000160219 SCV000210589 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000231178 SCV000283210 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1134 of the BRCA2 protein (p.Ser1134Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91799). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077707 SCV000109510 likely benign Breast-ovarian cancer, familial 2 2012-11-26 no assertion criteria provided clinical testing

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