ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) (rs75419644)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588236 SCV000883513 likely benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131135 SCV000186068 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112974 SCV000145941 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Color RCV000131135 SCV000683450 likely benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112974 SCV000744417 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120310 SCV000591769 likely benign not specified 2016-10-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120310 SCV000224761 benign not specified 2014-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000120310 SCV000108602 likely benign not specified 2018-01-30 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.
Genetic Services Laboratory, University of Chicago RCV000120310 SCV000593704 likely benign not specified 2017-04-07 criteria provided, single submitter clinical testing
ITMI RCV000120310 SCV000084462 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000043889 SCV000383640 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298855 SCV000383641 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588236 SCV000694565 benign not provided 2016-10-05 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1798T>C (p.Tyr600His) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant. This variant was found in 58/118492 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0058115 (56/9636). This frequency is about 8 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), evidence that this is a benign polymorphism found primarily in the populations of African origin. The variant was reported to co-occur with a pathogenic BRCA2 variant (p.Lys944X, UMD), another evidence of the benign nature of this variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Invitae RCV000043889 SCV000071902 benign Hereditary breast and ovarian cancer syndrome 2018-01-10 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131135 SCV000787919 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing

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