Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)

CA366744765

439243 (ClinVar)

Gene: PMS2
Condition: Lynch syndrome 1
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 7ac25e37-23ce-459b-a108-d230290a2161
Approved on: 2024-09-19
Published on: 2024-10-11

HGVS expressions

NM_000535.7:c.241G>T
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
NC_000007.14:g.6003981C>A
CM000669.2:g.6003981C>A
NC_000007.13:g.6043612C>A
CM000669.1:g.6043612C>A
NC_000007.12:g.6010138C>A
NG_008466.1:g.10126G>T
ENST00000699814.2:c.241G>T
ENST00000699840.2:c.241G>T
ENST00000699930.2:c.241G>T
ENST00000406569.8:c.241G>T
ENST00000415839.3:n.306G>T
ENST00000644110.2:c.241G>T
ENST00000699752.1:c.241G>T
ENST00000699753.1:c.-165G>T
ENST00000699754.1:c.241G>T
ENST00000699755.1:c.-165G>T
ENST00000699756.1:c.241G>T
ENST00000699757.1:c.26G>T
ENST00000699758.1:c.241G>T
ENST00000699759.1:n.313G>T
ENST00000699760.1:c.26G>T
ENST00000699761.1:c.-112G>T
ENST00000699762.1:c.-165G>T
ENST00000699763.1:c.-165G>T
ENST00000699764.1:c.241G>T
ENST00000699765.1:c.26G>T
ENST00000699766.1:c.241G>T
ENST00000699767.1:c.241G>T
ENST00000699768.1:c.241G>T
ENST00000699769.1:n.321G>T
ENST00000699770.1:n.297G>T
ENST00000699811.1:c.-340G>T
ENST00000699814.1:c.165G>T
ENST00000699815.1:c.-165G>T
ENST00000699816.1:c.-165G>T
ENST00000699817.1:c.164-1345G>T
ENST00000699818.1:c.-165G>T
ENST00000699819.1:c.-178G>T
ENST00000699820.1:c.241G>T
ENST00000699821.1:c.-165G>T
ENST00000699822.1:c.-165G>T
ENST00000699823.1:c.-112G>T
ENST00000699824.1:c.241G>T
ENST00000699825.1:c.-165G>T
ENST00000699826.1:c.-165G>T
ENST00000699827.1:c.241G>T
ENST00000699828.1:c.241G>T
ENST00000699829.1:c.-112G>T
ENST00000699830.1:c.241G>T
ENST00000699831.1:n.202G>T
ENST00000699833.1:n.321G>T
ENST00000699834.1:n.447G>T
ENST00000699837.1:c.-62G>T
ENST00000699838.1:c.*141G>T
ENST00000699839.1:c.427G>T
ENST00000699840.1:c.241G>T
ENST00000699916.1:c.-165G>T
ENST00000699917.1:c.241G>T
ENST00000699918.1:c.241G>T
ENST00000699919.1:c.241G>T
ENST00000699920.1:c.241G>T
ENST00000699928.1:c.241G>T
ENST00000699929.1:c.241G>T
ENST00000699930.1:c.241G>T
ENST00000699931.1:n.352G>T
ENST00000699932.1:c.241G>T
ENST00000699933.1:n.321G>T
ENST00000699951.1:c.241G>T
ENST00000699952.1:c.241G>T
ENST00000699953.1:c.241G>T
ENST00000699954.1:c.241G>T
ENST00000703409.1:n.440G>T
ENST00000265849.12:c.241G>T
ENST00000642292.1:c.-165G>T
ENST00000642456.1:c.-165G>T
ENST00000643595.1:c.241G>T
ENST00000644110.1:c.26G>T
ENST00000265849.11:c.241G>T
ENST00000380416.5:n.320G>T
ENST00000382321.5:c.241G>T
ENST00000406569.7:n.241G>T
ENST00000415839.2:n.253G>T
ENST00000441476.6:c.26G>T
ENST00000469652.1:n.62+2012G>T
NM_000535.5:c.241G>T
NR_003085.2:n.323G>T
NM_000535.6:c.241G>T
NM_001322003.1:c.-165G>T
NM_001322004.1:c.-165G>T
NM_001322005.1:c.-165G>T
NM_001322006.1:c.241G>T
NM_001322007.1:c.26G>T
NM_001322008.1:c.26G>T
NM_001322009.1:c.-165G>T
NM_001322010.1:c.-165G>T
NM_001322011.1:c.-644G>T
NM_001322012.1:c.-644G>T
NM_001322013.1:c.-165G>T
NM_001322014.1:c.241G>T
NM_001322015.1:c.-244G>T
NR_136154.1:n.328G>T
NM_001322003.2:c.-165G>T
NM_001322004.2:c.-165G>T
NM_001322005.2:c.-165G>T
NM_001322006.2:c.241G>T
NM_001322008.2:c.26G>T
NM_001322009.2:c.-165G>T
NM_001322010.2:c.-165G>T
NM_001322011.2:c.-644G>T
NM_001322012.2:c.-644G>T
NM_001322013.2:c.-165G>T
NM_001322014.2:c.241G>T
NM_001322015.2:c.-244G>T
NM_001322007.2:c.26G>T
More

Likely Pathogenic

Met criteria codes 2
PVS1 PM2_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP
The c.241G>T (p.Glu81Ter) (NM_000535.7) variant in PMS2 is a nonsense variant predicted to cause a premature stop codon in exon 3 in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is extremely rare (1 in 1594104 alleles) in gnomAD v4.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as likely pathogenic for Lynch-Syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis VCEP: PVS1, PM2_SUP (VCEP specifications version 1)
Met criteria codes
PVS1
The c.241G>T (p.Glu81Ter) (NM_000535.7) variant in PMS2 is a nonsense variant predicted to cause a premature stop codon in exon 3 in a gene in which loss-of-function is an established disease mechanism (PVS1).
PM2_Supporting
This variant is extremely rare (1 in 1594104 alleles) in gnomAD v4.1 dataset (PM2_Supporting).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.