ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.856T>C (p.Ser286Pro) (rs80359111)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000589428 SCV000073572 likely benign not provided 2019-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000045559 SCV000210550 likely benign not specified 2017-06-26 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.
Ambry Genetics RCV000163478 SCV000214033 likely benign Hereditary cancer-predisposing syndrome 2018-02-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Counsyl RCV000077446 SCV000488225 uncertain significance Breast-ovarian cancer, familial 2 2016-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000045559 SCV000602869 likely benign not specified 2017-02-27 criteria provided, single submitter clinical testing
Color RCV000163478 SCV000683984 likely benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589428 SCV000695164 likely benign not provided 2016-02-01 criteria provided, single submitter clinical testing Variant summary: c.856T>C affects a non-conserved nucleotide, resulting in amino acid change from Ser to Pro. 3/5 in-silico tools predict this variant to be benign. This variant was found in 1/120276 control chromosomes at a frequency of 0.0000083, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0007503). The variant of interest has been reported in one affected individual without strong evidence for causality (Balia_2011). Multiple functional studies showed that variant of interest variant has no effect on BRCA2 function (Balia_2011, Spugnesi_2013, and Guidugli_2013) and classified variant as neutral. BIC lists one individual with co-occurrence of this variant with a pathogenic BRCA1 variant c.5263_5264insC. In addition, multiple clinical labs (via ClinVar) classified this variant as likely benign. Considering all, this variant is classified as a Likely Benign until more evidence becomes available.
Sharing Clinical Reports Project (SCRP) RCV000077446 SCV000109244 likely benign Breast-ovarian cancer, familial 2 2013-03-04 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077446 SCV000145780 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing

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