ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1483G>C (p.Ala495Pro) (rs80358437)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571207 SCV000668594 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Color RCV000571207 SCV000683427 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781146 SCV000919010 uncertain significance not specified 2018-10-12 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.1483G>C (p.Ala495Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.3e-06 in 231532 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1483G>C has been reported in the literature (Lu_2015). This report does not provide an unequivocal conclusion about association of the variant with Hereditary Breast and Ovarian Cancer. A co-occurrence with another pathogenic variant has been reported (BRCA2 c.4409_4410delTA, p.I1470fsX11 - twice, once in our internal testing and another in the BIC database), providing supporting evidence for a benign role. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112926 SCV000145877 uncertain significance Breast-ovarian cancer, familial 2 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.