ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.-175C>T

gnomAD frequency: 0.00642  dbSNP: rs55880202
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Total submissions: 8
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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) RCV000191545 SCV000244911 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 0.03659 (African), derived from 1000 genomes (2012-04-30).
Illumina Laboratory Services, Illumina RCV000191545 SCV000383591 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2018-02-09 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.
Illumina Laboratory Services, Illumina RCV000287128 SCV000383592 likely benign Fanconi anemia complementation group D1 2018-02-09 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.
Genetic Services Laboratory, University of Chicago RCV000502751 SCV000593694 benign not specified 2017-05-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000502751 SCV000693621 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000829446 SCV000971176 likely benign not provided 2018-06-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514889 SCV001722848 benign Hereditary breast ovarian cancer syndrome 2023-11-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258824 SCV002533255 benign Hereditary cancer-predisposing syndrome 2020-03-28 criteria provided, single submitter curation

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