ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.-86C>T (rs143160357)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000354064 SCV000403079 uncertain significance Breast-ovarian cancer, familial 1 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV000501570 SCV000593668 uncertain significance not specified 2015-08-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501570 SCV000591223 benign not specified no assertion criteria provided clinical testing #N/A
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735614 SCV000863752 benign Breast and/or ovarian cancer 2013-06-18 no assertion criteria provided clinical testing
Center of Medical Genetics and Primary Health Care RCV001004838 SCV000987262 uncertain significance Malignant tumor of breast 2020-04-08 no assertion criteria provided research ACMG Guidelines 2015 criteria This variant is in the 5' UTR of the BRCA1 gene. This variant has been reported in a few cases in ClinVar as a VUS. 1 benign prediction from DANN versus no pathogenic predictions supports its benign effect (BP4 Benign Supporting). In our study it was detected in a 30-year-old female patient with unilateral breast cancer and no reported family history of cancer. Therefore, due to lack of sufficient evidence we classified this variant as a Variant of Uncertain Significance.

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