ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9073A>G (p.Ile3025Val) (rs879255470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000779983 SCV000916963 uncertain significance not specified 2017-11-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9073A>G (p.Ile3025Val) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 244944 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. The variant was found in 1 patient who also carried another pathogenic BRCA1 variant, c.3627dup (p.Glu1210ArgfsX9) (UMD). In addition, multiple clinical diagnostic laboratories classified this variant as uncertain significance. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000463078 SCV000549803 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 3025 of the BRCA2 protein (p.Ile3025Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 252855). 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 valine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000238820 SCV000297458 uncertain significance Breast-ovarian cancer, familial 2 2010-10-18 no assertion criteria provided clinical testing

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