ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3526G>A (p.Val1176Ile) (rs80358602)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221053 SCV000278489 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
Color RCV000221053 SCV000688812 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000637690 SCV000759161 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1176 of the BRCA2 protein (p.Val1176Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with breast cancer (PMID: 22713736).  ClinVar contains an entry for this variant (Variation ID: 126016). 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113189 SCV000146253 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113189 SCV000297520 uncertain significance Breast-ovarian cancer, familial 2 2008-11-07 no assertion criteria provided clinical testing

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