Submissions for variant NM_000535.7(PMS2):c.538-16T>G

gnomAD frequency: 0.00001  dbSNP: rs763941291

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479190	SCV000565384	uncertain significance	not provided	2016-11-11	criteria provided, single submitter	clinical testing	This variant is denoted PMS2 c.538-16T>G or IVS5-16T>G and consists of a T>G nucleotide substitution at the -16 position of intron 5 of the PMS2 gene. Multiple in silico models predict this variant to damage the nearby natural splice acceptor site, and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PMS2 c.538-16T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved. Based on currently available information, it is unclear whether PMS2 c.538-16T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health	RCV000773239	SCV000906852	likely benign	Hereditary cancer-predisposing syndrome	2016-10-17	criteria provided, single submitter	clinical testing
Invitae	RCV002056737	SCV002412518	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-12-19	criteria provided, single submitter	clinical testing