ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) (rs80358684)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755874 SCV000883512 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130950 SCV000185864 likely benign Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Other strong data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000113312 SCV000146438 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130950 SCV000903514 likely benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000113312 SCV000785700 uncertain significance Breast-ovarian cancer, familial 2 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV000044428 SCV000072441 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1512 of the BRCA2 protein (p.Arg1512Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs80358684, ExAC 0.002%). This variant has been reported in an individual with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 51660). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The cysteine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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.

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