ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) (rs28897708)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 29
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 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 and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000083086 SCV000154070 likely benign Breast-ovarian cancer, familial 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
CSER _CC_NCGL, University of Washington RCV000148429 SCV000190128 likely benign Neoplasm of the breast 2014-06-01 criteria provided, single submitter research
GeneDx RCV000168548 SCV000210561 likely benign not specified 2017-12-05 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768619 SCV000219301 likely benign Breast and/or ovarian cancer 2019-04-15 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000083086 SCV000267746 likely benign Breast-ovarian cancer, familial 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 and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000168548 SCV000301757 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000083086 SCV000383633 likely benign Breast-ovarian cancer, familial 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 Clinical Services Laboratory,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.
Integrated Genetics/Laboratory Corporation of America RCV000043820 SCV000494366 benign Hereditary breast and ovarian cancer syndrome 2014-10-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168548 SCV000591750 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
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 RCV000168548 SCV000602852 likely benign not specified 2018-11-21 criteria provided, single submitter clinical testing
Color 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 2 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083086 SCV000744412 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000034430 SCV000805654 likely benign not provided 2016-07-19 criteria provided, single submitter clinical testing
Mendelics RCV000043820 SCV000838759 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000083086 SCV001139002 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034430 SCV001247639 likely benign not provided 2020-03-01 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 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083086 SCV000145881 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083086 SCV000733231 benign Breast-ovarian cancer, familial 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

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.