ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.-52A>G

gnomAD frequency: 0.15771  dbSNP: rs206118
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Total submissions: 6
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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) RCV000191546 SCV000244912 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 0.1836 (Asian), 0.126 (African), 0.1636 (European), derived from 1000 genomes (2012-04-30).
Illumina Laboratory Services, Illumina RCV000191546 SCV000383595 benign Breast-ovarian cancer, familial, susceptibility to, 2 2018-01-13 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 RCV000338379 SCV000383596 benign Fanconi anemia complementation group D1 2018-01-13 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.
GeneKor MSA RCV000585661 SCV000693622 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000297492 SCV001000937 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001706165 SCV001848649 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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