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NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) AND Mismatch repair cancer syndrome 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000009815.8

Allele description [Variation Report for NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)]

NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
Other names:
p.R134*:CGA>TGA
HGVS:
  • NC_000007.14:g.6002590G>A
  • NG_008466.1:g.11517C>T
  • NM_000535.7:c.400C>TMANE SELECT
  • NM_001322003.2:c.-6C>T
  • NM_001322004.2:c.-6C>T
  • NM_001322005.2:c.-6C>T
  • NM_001322006.2:c.400C>T
  • NM_001322007.2:c.82C>T
  • NM_001322008.2:c.82C>T
  • NM_001322009.2:c.-6C>T
  • NM_001322010.2:c.-6C>T
  • NM_001322011.2:c.-485C>T
  • NM_001322012.2:c.-485C>T
  • NM_001322013.2:c.-6C>T
  • NM_001322014.2:c.400C>T
  • NM_001322015.2:c.91C>T
  • NP_000526.2:p.Arg134Ter
  • NP_001308935.1:p.Arg134Ter
  • NP_001308936.1:p.Arg28Ter
  • NP_001308937.1:p.Arg28Ter
  • NP_001308943.1:p.Arg134Ter
  • NP_001308944.1:p.Arg31Ter
  • LRG_161t1:c.400C>T
  • LRG_161:g.11517C>T
  • NC_000007.13:g.6042221G>A
  • NM_000535.5:c.400C>T
  • NM_000535.6:c.400C>T
  • NR_136154.1:n.487C>T
  • p.Arg134Stop
  • p.Arg134X
  • p.R134*
Protein change:
R134*; ARG134TER
Links:
OMIM: 600259.0001; dbSNP: rs63750871
NCBI 1000 Genomes Browser:
rs63750871
Molecular consequence:
  • NM_001322003.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322004.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322005.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322009.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322010.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322011.2:c.-485C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322012.2:c.-485C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322013.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_136154.1:n.487C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000535.7:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322006.2:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322007.2:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322008.2:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322014.2:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322015.2:c.91C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mismatch repair cancer syndrome 4
Identifiers:
MONDO: MONDO:0030843; MedGen: C5436817; OMIM: 619101

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030036OMIM
no assertion criteria provided
Pathogenic
(May 1, 2004) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The molecular basis of Turcot's syndrome.

Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, et al.

N Engl J Med. 1995 Mar 30;332(13):839-47.

PubMed [citation]
PMID:
7661930

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT.

Am J Hum Genet. 2004 May;74(5):954-64. Epub 2004 Apr 7.

PubMed [citation]
PMID:
15077197
PMCID:
PMC1181988
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000030036.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In an 18-year-old man (family 12) with colonic adenomas, lymphoma of the rectum, glioblastoma, and multiple cafe-au-lait spots consistent with mismatch repair cancer syndrome (MMRCS4; 619101), Hamilton et al. (1995) identified a heterozygous C-to-T transition in the PMS2 gene, resulting in an arg134-to-ter (R134X) substitution. His sister had colonic carcinoma and cafe-au-lait spots. In this family, De Vos et al. (2004) identified a second mutation in the PMS2 gene: a heterozygous 2-bp deletion in exon 13, within a repeated dinucleotide (CTCT) at codon 728-729 (600259.0005). The findings were consistent with autosomal recessive inheritance of the disorder.

Nicolaides et al. (1998) presented experimental evidence that the R134X substitution was sufficient to reduce mismatch repair and induce microsatellite instability in cells containing a wildtype PMS2 allele, suggesting that it could act in a dominant-negative manner.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024