ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)

dbSNP: rs876658938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221459 SCV000274808 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-23 criteria provided, single submitter clinical testing The p.V1270I variant (also known as c.3808G>A), located in coding exon 10 of the BRCA2 gene, results from a G to A substitution at nucleotide position 3808. The valine at codon 1270 is replaced by isoleucine, an amino acid with highly similar properties. In one study, this alteration was not detected in a cohort of 7051 unselected female breast cancer patients but was observed in 1/11241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000763885 SCV000894820 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001569103 SCV001793098 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.4036G>A; This variant is associated with the following publications: (PMID: 30287823)
University of Washington Department of Laboratory Medicine, University of Washington RCV000221459 SCV003846889 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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