Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001525679 | SCV001735858 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-04 | criteria provided, single submitter | clinical testing | This variant causes deletion of nucleotides at the +1 to +16 position in intron 22 of the BRCA1 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Likely Pathogenic. |
Ambry Genetics | RCV001525679 | SCV002650540 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-07 | criteria provided, single submitter | clinical testing | The c.5467+1_5467+16del16 intronic pathogenic mutation, located in intron 21 of the BRCA1 gene, results from a deletion of 16 nucleotides within intron 21 of the BRCA1 gene, causing a translational frameshift with a predicted alternate stop codon. This frameshift occurs near the C-terminus of BRCA1 and is not expected to trigger nonsense-mediated mRNA decay; however, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |