Gene dossier

PMS2

1,715 mutation records across 3 cancer labels and 4 source families.

0 actionable1 hotspotsDNA Repair

Top records

Prioritized variant evidence

Variant	Cancer	Evidence	Frequency	Sources
PMS2 p.S587C substitution	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
PMS2 p.X725_splice splice	ACC	Likely Driver	1.1%	cBioPortal, TCGA Pan-Cancer Atlas
PMS2 p.L378M substitution	ACC	Likely Driver	1.1%	cBioPortal, TCGA Pan-Cancer Atlas
PMS2 p.K651R substitution	Not reported	DriverHotspot	Not reported	Cancer Hotspots
PMS2 p.Arg134Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg134Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Thr408fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Thr408fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg802Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg802Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg341fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg341fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg628Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg628Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg578fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg578fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Ser46Ile substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Ser46Ile substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Cys73Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Cys73Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Leu359fs duplication	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Leu359fs duplication	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Asn371fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Asn371fs deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Asn383Aspfs*7 deletion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.? insertion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.? insertion	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg421Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Arg421Ter substitution	UNSPEC	Driver	Not reported	ClinVar
PMS2 p.Ser436fs duplication	UNSPEC	Driver	Not reported	ClinVar