ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe) (rs398122738)

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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 RCV000164636 SCV000215300 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-30 criteria provided, single submitter clinical testing The p.I682F variant (also known as c.2044A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 2044. The isoleucine at codon 682 is replaced by phenylalanine, an amino acid with highly similar properties. 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000164636 SCV000679711 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000695727 SCV000824242 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-01-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 682 of the BRCA2 protein (p.Ile682Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91767). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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 Health, Inc RCV000164636 SCV001340000 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077675 SCV000109478 uncertain significance Breast-ovarian cancer, familial 2 2012-09-25 no assertion criteria provided clinical testing

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