ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) (rs28897708)

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Total submissions: 26
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034430 SCV000602852 likely benign not provided 2017-11-28 criteria provided, single submitter clinical testing The BRCA2 c.1514T>C; p.Ile505Thr variant (rs28897708) has been reported multiple times in ClinVar as benign or likely benign (Variation ID: 41542). This variant is observed in the general population databases with allele frequencies in Europeans of 0.2% (2/1006 alleles) in the 1000 Genomes Project, 0.1% (9/8596 alleles) in the Exome Variant Server, and 0.09% (109/120824 alleles) in the Genome Aggregation Database. The isoleucine at codon 505 is moderately conserved across species, and computational algorithms predict the p.Ile505Thr variant to be tolerated (SIFT, PolyPhen2, MutationTaster, Align GVGD, Prior Probabilities). Based on the above information, this variant is considered likely benign.
Ambry Genetics RCV000128939 SCV000172813 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000083086 SCV000145881 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768619 SCV000219301 likely benign Breast and/or ovarian cancer 2017-09-07 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148429 SCV000190128 likely benign Neoplasm of the breast 2014-06-01 criteria provided, single submitter research
Color RCV000128939 SCV000683428 likely benign Hereditary cancer-predisposing syndrome 2015-02-20 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
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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168548 SCV000591750 benign not specified 2012-11-15 criteria provided, single submitter 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
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.
Genetic Services Laboratory, University of Chicago RCV000168548 SCV000593703 likely benign not specified 2017-02-22 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
Illumina Clinical Services Laboratory,Illumina RCV000043820 SCV000383633 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405614 SCV000383634 likely benign Fanconi anemia 2016-06-14 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
Integrated Genetics/Laboratory Corporation of America RCV000043820 SCV000494366 benign Hereditary breast and ovarian cancer syndrome 2014-10-20 criteria provided, single submitter clinical testing
Invitae RCV000043820 SCV000071833 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 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
Mendelics RCV000043820 SCV000838759 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 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
PreventionGenetics RCV000168548 SCV000301757 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000034430 SCV000805654 likely benign not provided 2016-07-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083086 SCV000115160 benign Breast-ovarian cancer, familial 2 2012-05-01 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

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