Submissions for variant NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)

dbSNP: rs1554301436

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000572260	SCV000670841	uncertain significance	Hereditary cancer-predisposing syndrome	2023-08-03	criteria provided, single submitter	clinical testing	The c.774_780delCTGTTCCinsTACG variant (also known as p.C259_S260delinsT), located in coding exon 7 of the PMS2 gene, results from an in-frame deletion of CTGTTCC and insertion of TACG at nucleotide positions 774 to 780. This results in the substitution of cysteine and serine residues for a threonine residue at codons 259-260. These amino acid positions are not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688).Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV000679363	SCV000806223	uncertain significance	not provided	2018-01-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000572260	SCV001348265	uncertain significance	Hereditary cancer-predisposing syndrome	2019-02-25	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV003128247	SCV003804701	uncertain significance	Lynch syndrome 4	2023-01-11	criteria provided, single submitter	clinical testing	_x000D_ Criteria applied: PM2_SUPP, PM4