Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076848 | SCV000108337 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Counsyl | RCV000409351 | SCV000488736 | pathogenic | Lynch syndrome 4 | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575018 | SCV000674233 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-30 | criteria provided, single submitter | clinical testing | The c.2243_2246delAGAA pathogenic mutation, located in coding exon 13 of the PMS2 gene, results from a deletion of 4 nucleotides at nucleotide positions 2243 to 2246, causing a translational frameshift with a predicted alternate stop codon (p.K748Mfs*19). This mutation (also designated as 2267delAGAA) has been reported in at least one individual diagnosed with colon cancer before age 40 (Jenkins MA et al. Clin. Gastroenterol. Hepatol., 2006 Apr;4:489-98; Southey MC et al. J. Clin. Oncol., 2005 Sep;23:6524-32). In addition to the clinical data presented in the literature, 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. |
Invitae | RCV001239541 | SCV001412420 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-11-08 | criteria provided, single submitter | clinical testing | The location of this variant in this individual is uncertain. It could create a nonsense change (c.2243_2246del, p.Lys748Metfs*19) in exon 13 of the PMS2 gene, or a variant in exon 4 of the PMS2CL pseudogene. Until the location of this sequence change can be resolved, the clinical significance of this variant remains uncertain. It has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002498371 | SCV002806527 | pathogenic | Lynch syndrome 4; Mismatch repair cancer syndrome 4 | 2022-04-16 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000409351 | SCV004019949 | pathogenic | Lynch syndrome 4 | 2023-04-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |