ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile) (rs80358448)

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 RCV000130669 SCV000185555 likely benign Hereditary cancer-predisposing syndrome 2017-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000083087 SCV000145901 uncertain significance Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Color RCV000130669 SCV000903012 benign Hereditary cancer-predisposing syndrome 2015-11-16 criteria provided, single submitter clinical testing
Counsyl RCV000083087 SCV000488320 uncertain significance Breast-ovarian cancer, familial 2 2016-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000212211 SCV000210565 likely benign not specified 2017-04-26 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.
Integrated Genetics/Laboratory Corporation of America RCV000586961 SCV000694550 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1631C>T (p.Thr544Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. The variant of interest has been found in a large, broad control population, ExAC in 1/121014 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant was reported in prostate, ovarian, and pancreatic cancer patients, however, without strong evidence for causality such as co-segregation. The variant has been reported to co-occur with multiple pathogenic BRCA1 variants, c.3756_3759delGTCT (p.Ser1253ArgfsX10 - classified as pathogenic by LCA, UMD), exon13ins6kb (BIC), and an unknown reported pathogenic BRCA (Alsop_2012). These co-occurrences indicate the variant to be in the benign spectrum. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign, although some have classified the variant as "uncertain significance." Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000043847 SCV000071860 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083087 SCV000115161 likely benign Breast-ovarian cancer, familial 2 2012-05-01 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.