ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9187C>T (p.Pro3063Ser) (rs80359176)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045740 SCV000073753 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 3063 of the BRCA2 protein (p.Pro3063Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs80359176, ExAC 0.009%). This variant has been observed in a patient affected with ovarian cancer (PMID: 14746861, 18559594). This variant is also known as 9415C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 52770). Experimental studies have shown that this variant does not affect homology-directed repair (HDR) activity of the BRCA2 protein (PMID: 23108138, 24323938). In addition, BRCA2-specific algorithm and multifactorial likelihood analyses based on genetic evidence from a large database of tested individuals both predict that this variant is neutral or likely neutral (PMID: 19043619, 21990134, 23108138). 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.
Color RCV000773278 SCV000906961 likely benign Hereditary cancer-predisposing syndrome 2017-03-05 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114062 SCV000147561 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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