ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) (rs70953664)

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Total submissions: 19
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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) RCV000113286 SCV000245031 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 0.0122 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000167832 SCV000072388 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120327 SCV000202286 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162766 SCV000213243 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.
Counsyl RCV000113286 SCV000220272 benign Breast-ovarian cancer, familial 2 2014-04-25 criteria provided, single submitter literature only
Vantari Genetics RCV000162766 SCV000267016 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113286 SCV000267764 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000113286 SCV000383695 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 RCV000346290 SCV000383696 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 RCV000167832 SCV000494351 benign Hereditary breast and ovarian cancer syndrome 2014-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000113286 SCV000575755 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 RCV000120327 SCV000591896 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120327 SCV000593716 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283466 SCV000602745 benign none provided 2019-11-08 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162766 SCV000683605 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113286 SCV000744453 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
ITMI RCV000120327 SCV000084479 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000113286 SCV000146394 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656603 SCV000778673 likely benign not provided 2017-07-24 no assertion criteria provided clinical testing

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