ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) (rs55853199)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755872 SCV000883503 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing The BRCA2 c.10202C>T; p.Thr3401Met variant (rs55853199) is reported by multiple laboratories in ClinVar (Variation ID: 51053), and found in the general population with an overall allele frequency of 0.002% (6/276618 alleles) in the Genome Aggregation Database. The threonine at codon 3401 is weakly conserved, but computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Given the lack of clinical and functional data, the significance of the p.Thr3401Met variant is uncertain at this time.
Ambry Genetics RCV000132503 SCV000187597 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077247 SCV000145765 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000132503 SCV000903035 benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000435257 SCV000512406 likely benign not specified 2017-04-07 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 RCV000043725 SCV000071738 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000435257 SCV000538500 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: 2 LB, 2 VUS, reported in 1 proband
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000435257 SCV000600455 uncertain significance not specified 2016-11-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077247 SCV000109044 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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