Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Predisposition to Colorectal Cancer Group, |
RCV000416810 | SCV000262603 | likely pathogenic | Carcinoma of colon | 2015-11-01 | criteria provided, single submitter | clinical testing | Variant detected by whole exome sequencing in a family presenting aggregation for colorectal cancer |
Ambry Genetics | RCV003165503 | SCV003859384 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-16 | criteria provided, single submitter | clinical testing | The c.595dupC pathogenic mutation, located in coding exon 6 of the FANCC gene, results from a duplication of C at nucleotide position 595, causing a translational frameshift with a predicted alternate stop codon (p.L199Pfs*12). This alteration has been identified by whole exome sequencing in a family affected with colorectal cancer (Esteban-Jurado C et al. Eur J Hum Genet, 2016 Oct;24:1501-5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Gene |
RCV003227715 | SCV003924580 | likely pathogenic | not provided | 2022-11-10 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in a father and daughter with colorectal cancer (Esteban-Jurado et al., 2016); This variant is associated with the following publications: (PMID: 27165003) |