ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9496G>A (p.Val3166Ile) (rs398122615)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131348 SCV000186323 likely benign Hereditary cancer-predisposing syndrome 2016-12-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Other strong data supporting benign classification
Counsyl RCV000077043 SCV000786556 uncertain significance Breast-ovarian cancer, familial 2 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000543406 SCV000635745 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 3166 of the BRCA2 protein (p.Val3166Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs398122615, ExAC 0.009%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91526). 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 isoleucine 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) RCV000077043 SCV000108840 uncertain significance Breast-ovarian cancer, familial 2 2011-09-08 no assertion criteria provided clinical testing

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