Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130635 | SCV000185513 | uncertain significance | Hereditary cancer-predisposing syndrome | 2013-11-14 | criteria provided, single submitter | clinical testing | ​The c.2276-3delT variant is located 3 nucleotides before coding exon 14 of the PMS2 gene. This variant results from a deletion of one nucleotide at position 2276-3. 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. To date, this alteration has been detected with an allele frequency of approximately 0.01% (>8,100 alleles tested) in our clinical cohort (includes this individual). This nucleotide position is not well conserved on available sequence alignment. Using the BDGP and ESEfinder splice site prediction tools, this alteration does not have any significant effect on this acceptor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of c.2276-3delT remains unclear. |