ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) (rs397507382)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132508 SCV000187604 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Invitae RCV000206651 SCV000261841 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000031666 SCV000487804 uncertain significance Breast-ovarian cancer, familial 2 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000445338 SCV000512384 likely benign not specified 2018-02-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000445338 SCV000592098 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000445338 SCV000695039 benign not specified 2019-05-20 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7102T>G (p.Leu2368Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.8e-05 in 282366 control chromosomes, exclusively found within the East Asian subpopulation with a frequency of 0.0011 in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 1.5 fold of the estimated maximal expected allele frequency for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer phenotype (0.00075), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. The variant, c.7102T>G, has been reported in the literature in individuals affected with breast cancer, but without evidence for causality (Carney_2010, Chan_2018). In addition, co-occurrences with another pathogenic BRCA2 variant have been reported (BRCA2 c.7878G>A (p.Trp2626X); in Carney_2010 and in our internal database), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant a VUS (1x), Likely benign (2x) and Benign (1x). Based on the evidence outlined above, the variant was classified as benign.
Color RCV000132508 SCV000910908 benign Hereditary cancer-predisposing syndrome 2016-12-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031666 SCV000054273 benign Breast-ovarian cancer, familial 2 2011-11-08 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.