ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) (rs80357048)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
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) RCV000077589 SCV000244372 benign Breast-ovarian cancer, familial 1 2015-08-10 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 = 0.0000627
Invitae RCV000586145 SCV000076704 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077589 SCV000195934 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000048691 SCV000209980 likely benign not specified 2017-09-14 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.
Ambry Genetics RCV000162989 SCV000213477 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000048691 SCV000538456 uncertain significance not specified 2016-08-11 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified as benign by expert panel (8/10/15)
Color RCV000162989 SCV000683226 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586145 SCV000699181 benign not provided 2016-03-22 criteria provided, single submitter clinical testing Variant Summary: This variant involves alteration of a non-conserved nucleotide and 2/4 in silico tools predict a benign outcome (SNP&GO not captured here due to low reliability index). This variant was found in 3/121924 control chromosomes at a frequency of 0.0000246, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0010005). Variant has been reported in multiple affected individuals without evidence for causality. In particular, this variant is found to commonly co-occur with the BRCA1 pathogenic variant c.2457delC (internal data, BIC database, Humphrey_1997, and Tavtigian_2006), suggesting this variant of interest is in linkage disequilibrium and has been suggested to be a rare polymorphism per Humphrey_1997. In addition, multiple publications (Easton_2007, Lindor_2012 and Humphrey_1997), clinical labs, and databases (ARUP, ClinVar, Invitae, SCRP) classify the variant as benign/likely benign. Functional studies suggest that the variant acts comparably to wild-type (Humphrey_1997 and Coyne_2004). Considering all, variant is classified as Benign.
Mendelics RCV000077589 SCV001140505 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077589 SCV000109392 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077589 SCV000145207 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 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.