ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) (rs144848)

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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 RCV000034427 SCV000602750 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130720 SCV000185607 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000468776 SCV000541021 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034427 SCV000043195 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120303 SCV000586924 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000768560 SCV000899225 benign Breast carcinoma 2019-04-18 criteria provided, single submitter clinical testing
Color RCV000130720 SCV000292084 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000009916 SCV000154058 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 28.6 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000009916 SCV000744401 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000009916 SCV000733222 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120303 SCV000202279 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000009916 SCV000245002 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.2552 (Asian), 0.09756 (African), 0.2876 (European), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000009916 SCV000575730 benign Breast-ovarian cancer, familial 2 2015-08-24 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120303 SCV000693629 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000009916 SCV000743255 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000009916 SCV000746278 uncertain significance Breast-ovarian cancer, familial 2 2017-12-03 criteria provided, single submitter clinical testing
ITMI RCV000120303 SCV000084455 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000260146 SCV000383626 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320173 SCV000383627 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000320173 SCV000494300 benign Hereditary breast and ovarian cancer syndrome 2014-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120303 SCV000966258 benign not specified 2016-05-23 criteria provided, single submitter clinical testing p.Asn372His in exon 10 of BRCA2: This variant is not expected to have clinical s ignificance because it has been identified in 35.58% (5867/16490) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs144848).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034427 SCV000778640 benign not provided 2016-11-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000009916 SCV000195957 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. RCV000207052 SCV000258681 uncertain significance Ductal breast carcinoma 2015-07-20 no assertion criteria provided research
OMIM RCV000009916 SCV000030137 uncertain significance Breast-ovarian cancer, familial 2 2014-02-01 no assertion criteria provided literature only
PreventionGenetics RCV000120303 SCV000301752 benign not specified criteria provided, single submitter clinical testing

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