ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)

gnomAD frequency: 0.00074  dbSNP: rs28897708
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 33
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) RCV000083086 SCV001161525 benign Breast-ovarian cancer, familial, susceptibility to, 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 = 2.83E-31
Invitae RCV000043820 SCV000071833 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000083086 SCV000154070 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-02-17 criteria provided, single submitter literature only
Ambry Genetics RCV000128939 SCV000172813 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CSER _CC_NCGL, University of Washington RCV000148429 SCV000190128 likely benign Breast neoplasm 2014-06-01 criteria provided, single submitter research
GeneDx RCV000034430 SCV000210561 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16847550, 20104584, 22505045, 11241844, 25569433, 23231788, 26625824, 24916970, 15955690, 16826315, 19471317, 20127978, 18724707, 22703879, 16760289, 20694749, 25637381, 26306726, 24489791, 18559594, 15983021, 24055113, 21952622, 21702907, 21520273, 24082139, 27153395, 26332594, 12474142, 27621404, 28283652, 30254663)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768619 SCV000219301 likely benign Breast and/or ovarian cancer 2023-05-05 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories, University of Michigan RCV000083086 SCV000267746 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000043820 SCV000267842 likely benign Hereditary breast ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000168548 SCV000301757 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000083086 SCV000383633 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2018-05-01 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000405614 SCV000383634 likely benign Fanconi anemia complementation group D1 2018-05-01 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000043820 SCV000494366 benign Hereditary breast ovarian cancer syndrome 2014-10-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000168548 SCV000538494 uncertain significance not specified 2016-06-16 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: ClinVar: 8 labs classify as B/LB
Genetic Services Laboratory, University of Chicago RCV000168548 SCV000593703 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034430 SCV000602852 likely benign not provided 2023-09-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000128939 SCV000683428 likely benign Hereditary cancer-predisposing syndrome 2015-02-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000083086 SCV000743261 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000083086 SCV000744412 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
Mendelics RCV000043820 SCV000838759 likely benign Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000083086 SCV001139002 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000034430 SCV001247639 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing BRCA2: BP4
Sema4, Sema4 RCV000128939 SCV002533238 benign Hereditary cancer-predisposing syndrome 2020-08-06 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000168548 SCV002550280 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034430 SCV000043197 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Sharing Clinical Reports Project (SCRP) RCV000083086 SCV000115160 benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083086 SCV000145881 benign Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000168548 SCV000591750 benign not specified no assertion criteria provided clinical testing Borg_2010 Capanu_2011 Cavallone_2010 Edwards_2001 Edwards_2003 Giannini_2006 Haffty_2006 Peixoto_2006 Soegaard_2008 Morgan_2010
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000083086 SCV000733231 benign Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128939 SCV000886671 likely benign Hereditary cancer-predisposing syndrome 2018-11-09 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000168548 SCV001905752 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168548 SCV001951491 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000034430 SCV002036681 likely benign not provided 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.