ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8944A>C (p.Lys2982Gln) (rs80359145)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045662 SCV000073675 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-04 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 2982 of the BRCA2 protein (p.Lys2982Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs80359145, ExAC 0.009%). This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 28111427). ClinVar contains an entry for this variant (Variation ID: 52705). An algorithm developed specifically for the BRCA2 gene suggests that this missense change is likely to be tolerated (PMID: 19043619). However, this prediction has not been confirmed by published functional studies and its 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.
GeneKor MSA RCV000708685 SCV000821948 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985613 SCV001133958 uncertain significance not provided 2018-12-11 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114017 SCV000147492 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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