ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3358G>C (p.Glu1120Gln) (rs587778124)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465787 SCV000549852 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1120 of the BRCA2 protein (p.Glu1120Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs587778124, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The glutamine 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.
Color RCV001191385 SCV001359198 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-29 criteria provided, single submitter clinical testing
ITMI RCV000120337 SCV000084489 not provided not specified 2013-09-19 no assertion provided reference population

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