ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1487C>T (p.Ser496Phe) (rs397507269)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772728 SCV000906025 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-23 criteria provided, single submitter clinical testing
Invitae RCV000205000 SCV000260810 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 496 of the BRCA2 protein (p.Ser496Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual with personal and/or family history of breast and ovarian cancer (PMID: 27376475). ClinVar contains an entry for this variant (Variation ID: 37743). 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.
Sharing Clinical Reports Project (SCRP) RCV000031324 SCV000053929 uncertain significance Breast-ovarian cancer, familial 2 2012-06-22 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.