ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) (rs80358820)

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 RCV000128953 SCV000172831 likely benign Hereditary cancer-predisposing syndrome 2016-10-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000031585 SCV000146722 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing
Color RCV000128953 SCV000903520 benign Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing
Counsyl RCV000031585 SCV000784831 uncertain significance Breast-ovarian cancer, familial 2 2017-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000439783 SCV000512372 likely benign not specified 2018-01-10 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.
Integrated Genetics/Laboratory Corporation of America RCV000587267 SCV000694914 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5882G>A (p.Ser1961Asn) 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) (meets BP4 rule of ACMG guidelines). This variant is absent in 120970 control chromosomes. It has been reported in HBOC families without evidence of causality (i.e. co-segregation). Additionally, the variant was found in one individual who also carried a pathogenic variant BRCA1 c.3331_3334delCAAG (meets BP5 rule of ACMG guidelines), ruling out the variant as a primary cause of HBOC in the individual. Furthermore, multiple clinical diagnostic laboratories (2/3 labs in ClinVar) have classified this variant as benign/likely benign without evidence to independently evaluate. Taken together, the variant is currently classified as a VUS-possibly benign until additional information becomes available.
Invitae RCV000044784 SCV000072797 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031585 SCV000054191 benign Breast-ovarian cancer, familial 2 2012-03-12 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.