ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4484+14A>G

gnomAD frequency: 0.00019  dbSNP: rs80358022
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 18
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) RCV000112340 SCV000244677 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01224 (Asian), derived from 1000 genomes (2012-04-30).
Invitae RCV000167814 SCV000076584 benign Hereditary breast ovarian cancer syndrome 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000048571 SCV000167304 benign not specified 2013-11-25 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.
Counsyl RCV000112340 SCV000221034 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-15 criteria provided, single submitter literature only
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000048571 SCV000538432 benign not specified 2016-03-29 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: ExAC: 1.0% (84/8640) East Asian chromosomes; ClinVar: 3 labs classify as B/LB
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000048571 SCV000586899 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001705708 SCV000602731 benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579438 SCV000683186 benign Hereditary cancer-predisposing syndrome 2015-02-23 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000579438 SCV000803146 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Mendelics RCV000112340 SCV001140521 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000112340 SCV001280759 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4,Sema4 RCV000579438 SCV002537752 benign Hereditary cancer-predisposing syndrome 2020-11-30 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA1) RCV000112340 SCV000145096 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2006-07-19 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353535 SCV000591516 benign Malignant tumor of breast no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV001705708 SCV001905923 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705708 SCV001930926 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000048571 SCV001954722 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000048571 SCV002036234 benign not specified 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.