ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.971G>C (p.Arg324Thr) (rs397507435)

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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 RCV000130515 SCV000185384 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000130515 SCV000689221 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing
Counsyl RCV000031844 SCV000785260 uncertain significance Breast-ovarian cancer, familial 2 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457938 SCV000549771 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 324 of the BRCA2 protein (p.Arg324Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is present in population databases (rs397507435, ExAC 0.003%). This variant has been reported in an individual affected with breast cancer (PMID: 11802209) and in an individual affected with ovarian cancer and developmental disorders who also carried biallelic pathogenic variants in the BRCA1 gene, suggesting that this c.971G>C BRCA2 variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 38261). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031844 SCV000296755 uncertain significance Breast-ovarian cancer, familial 2 2016-04-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031844 SCV000054452 uncertain significance Breast-ovarian cancer, familial 2 2011-11-02 no assertion criteria provided clinical testing

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