ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2698A>G (p.Asn900Asp) (rs55736268)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113078 SCV001161610 benign Breast-ovarian cancer, familial 2 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000293
Invitae RCV000044039 SCV000072052 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130836 SCV000185734 likely benign Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Counsyl RCV000113078 SCV000488497 uncertain significance Breast-ovarian cancer, familial 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000587512 SCV000567000 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18284688, 23929434, 20167696, 28843361, 26580448, 31131967)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587512 SCV000694619 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2698A>G (p.Asn900Asp) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 5/120568 control chromosomes at a frequency of 0.0000415, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant was reported in one BrC pt with no evidence to support the causative correlation of this variant with disease (Lee_2008). The variant was found in a patient in an internal sample who also carries a disease causing BRCA1 variant, c.2722G>T (p.Glu908X classified as pathogenic by LCA) suggesting a possibly benign impact. In addition, multiple clinical labs (via ClinVar) and database (BIC, BRCA Share) classified this variant as likely benign/VUS. Considering the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance until additional information becomes available.
Color Health, Inc RCV000130836 SCV000903070 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587512 SCV001469669 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001646089 SCV001854729 benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA2) RCV000113078 SCV000146090 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 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.