ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4906A>G (p.Lys1636Glu) (rs398122788)

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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 RCV000166671 SCV000217478 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240716 SCV000265947 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Invitae RCV000231152 SCV000283252 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1636 of the BRCA2 protein (p.Lys1636Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs398122788, ExAC 0.009%). This variant has been observed in an individual affected with breast cancer (PMID: 27257965). ClinVar contains an entry for this variant (Variation ID: 91829). 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 glutamic acid 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758900 SCV000887829 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Color RCV000166671 SCV000906093 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077737 SCV000109540 uncertain significance Breast-ovarian cancer, familial 2 2011-03-17 no assertion criteria provided clinical testing

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