ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) (rs397508016)

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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 RCV000166571 SCV000217373 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507771 SCV000600827 uncertain significance not specified 2017-01-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000166571 SCV000903911 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-13 criteria provided, single submitter clinical testing
Mendelics RCV000077454 SCV001139235 benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001318143 SCV001508834 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 2952 of the BRCA2 protein (p.Met2952Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer and in an unrelated family affected with breast and/or ovarian cancer (PMID: 12845657, 28477318). ClinVar contains an entry for this variant (Variation ID: 52693). 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 valine 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.
Sharing Clinical Reports Project (SCRP) RCV000077454 SCV000109252 uncertain significance Breast-ovarian cancer, familial 2 2011-06-02 no assertion criteria provided clinical testing

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