ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)

gnomAD frequency: 0.00096  dbSNP: rs28897711
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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) RCV000112997 SCV000578015 benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0014 (Non-Finnish European), derived from ExAC (2014-12-17).
Invitae RCV000043928 SCV000071941 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000112997 SCV000154092 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-03-24 criteria provided, single submitter literature only
GeneDx RCV000168554 SCV000167338 benign not specified 2013-12-04 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 RCV000162567 SCV000212980 likely benign Hereditary cancer-predisposing syndrome 2014-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768625 SCV000219312 benign Breast and/or ovarian cancer 2020-05-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000168554 SCV000225175 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories, University of Michigan RCV000112997 SCV000267748 benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330209 SCV000383644 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043928 SCV000383645 likely benign Hereditary breast ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000043928 SCV000494304 benign Hereditary breast ovarian cancer syndrome 2014-05-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000466510 SCV000541032 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000168554 SCV000586933 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168554 SCV000593706 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656590 SCV000602817 benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162567 SCV000683463 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000112997 SCV000744422 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000656590 SCV000780459 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing BRCA2: BP4, BP7
Preventiongenetics, part of Exact Sciences RCV000656590 SCV000805659 likely benign not provided 2016-11-23 criteria provided, single submitter clinical testing
Mendelics RCV000112997 SCV001139017 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162567 SCV002533280 benign Hereditary cancer-predisposing syndrome 2020-10-23 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000168554 SCV002550299 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483045 SCV002802990 likely benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 2022-03-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112997 SCV000145982 benign Breast-ovarian cancer, familial, susceptibility to, 2 2002-12-23 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000168554 SCV000591784 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112997 SCV000733237 benign Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656590 SCV000778650 likely benign not provided 2017-04-20 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000168554 SCV001906133 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000168554 SCV001926655 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168554 SCV001954551 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000168554 SCV002036629 benign not specified no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000112997 SCV004244240 benign Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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