ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.449A>G (p.His150Arg) (rs397507722)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044425 SCV000072438 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 150 of the BRCA2 protein (p.His150Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual from a family affected with breast cancer (PMID: 15876480). This variant is also known as 677A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 51657). 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 arginine amino acid residue is 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 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.
Ambry Genetics RCV000130685 SCV000185572 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Genetic Services Laboratory, University of Chicago RCV000499599 SCV000593741 uncertain significance not specified 2016-09-29 criteria provided, single submitter clinical testing
Color RCV000130685 SCV000688880 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-19 criteria provided, single submitter clinical testing
Counsyl RCV000663195 SCV000786370 uncertain significance Breast-ovarian cancer, familial 2 2018-04-18 criteria provided, single submitter clinical testing
Mendelics RCV000044425 SCV000838732 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759616 SCV000889049 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing

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