Total submissions: 3
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 |
RCV002055842 | SCV002380704 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-07-28 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001072287 | SCV001237641 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |