ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.-1A>C

dbSNP: rs587781565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129589 SCV000184373 uncertain significance Hereditary cancer-predisposing syndrome 2013-09-13 criteria provided, single submitter clinical testing The c.-1A>C (also known as 119A>C) variant is located in the 5' untranslated region (5'UTR) of the BRCA1 gene. This alteration results from a A to C substitution one nucleotide upstream of the initiation codon. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. Based on nucleotide sequence alignment, this position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.-1A>C remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055842 SCV002380704 likely benign Hereditary breast ovarian cancer syndrome 2021-07-28 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001072287 SCV001237641 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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