Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001009843 | SCV001169959 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-16 | criteria provided, single submitter | clinical testing | The c.108+2_108+12del11insCGGC intronic variant, located in intron 2 of the PALB2 gene, results from an in-frame from the deletion of 11 nucleotides and the insertion of 4 nucleotides at nucleotide position 108. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |