ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)

gnomAD frequency: 0.03688  dbSNP: rs1801439
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Total submissions: 32
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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) RCV000112914 SCV000245004 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1049 (Asian), 0.01423 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000112914 SCV000154041 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 3.7 %.
GeneDx RCV000173629 SCV000167332 benign not specified 2013-09-27 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.
Ambry Genetics RCV000131025 SCV000185954 benign Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Michigan Medical Genetics Laboratories, University of Michigan RCV000112914 SCV000195960 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-11-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000173629 SCV000224757 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173629 SCV000301755 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000112914 SCV000383631 benign Breast-ovarian cancer, familial, susceptibility to, 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000288642 SCV000383632 benign Fanconi anemia complementation group D1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000387648 SCV000494302 benign Hereditary breast ovarian cancer syndrome 2014-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000131025 SCV000537348 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476213 SCV000541028 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000173629 SCV000586927 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656587 SCV000602760 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneKor MSA RCV000173629 SCV000693630 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000112914 SCV000743258 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000112914 SCV000744409 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000387648 SCV001000605 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000387648 SCV002026068 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited RCV000112914 SCV002097614 benign Breast-ovarian cancer, familial, susceptibility to, 2 criteria provided, single submitter clinical testing
Genetics Program, Instituto Nacional de Cancer RCV000387648 SCV002515249 benign Hereditary breast ovarian cancer syndrome 2021-11-01 criteria provided, single submitter research
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000173629 SCV002550275 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000112914 SCV004016819 benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000656587 SCV005236037 benign not provided criteria provided, single submitter not provided
Breast Cancer Information Core (BIC) (BRCA2) RCV000112914 SCV000145860 benign Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112914 SCV000189294 benign Breast-ovarian cancer, familial, susceptibility to, 2 2011-03-15 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112914 SCV000733229 benign Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656587 SCV000778644 benign not provided 2017-03-06 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000173629 SCV001551607 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000173629 SCV001800401 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000173629 SCV001906236 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000173629 SCV001957574 benign not specified no assertion criteria provided clinical testing

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