ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) (rs4987048)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113464 SCV000245034 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 0.01626 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000167833 SCV000072736 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131020 SCV000185947 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120340 SCV000202290 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Counsyl RCV000113464 SCV000220271 benign Breast-ovarian cancer, familial 2 2014-04-28 criteria provided, single submitter literature only
Vantari Genetics RCV000131020 SCV000267018 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113464 SCV000267785 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000113464 SCV000383723 likely benign Breast-ovarian cancer, familial 2 2018-10-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000314320 SCV000383724 likely benign Fanconi anemia, complementation group D1 2018-10-29 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 RCV000167833 SCV000494333 benign Hereditary breast and ovarian cancer syndrome 2014-02-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424920 SCV000511549 likely benign not provided 2016-06-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Baylor Genetics RCV000462033 SCV000541052 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000113464 SCV000575756 likely benign Breast-ovarian cancer, familial 2 2016-01-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120340 SCV000591989 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120340 SCV000593718 benign not specified 2019-02-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120340 SCV000602746 benign not specified 2018-11-20 criteria provided, single submitter clinical testing
Color RCV000131020 SCV000683727 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120340 SCV000693638 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113464 SCV000744475 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120340 SCV000805730 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
ITMI RCV000120340 SCV000084492 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000113464 SCV000146670 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000424920 SCV000778689 benign not provided 2017-07-24 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735573 SCV000863711 uncertain significance Breast and/or ovarian cancer 2002-12-04 no assertion criteria provided clinical testing

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