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NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter) AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 23, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000541933.5

Allele description

NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
HGVS:
  • NC_000002.12:g.47476402C>T
  • NG_007110.2:g.78279C>T
  • NM_000251.3:c.2041C>TMANE SELECT
  • NM_001258281.1:c.1843C>T
  • NP_000242.1:p.Gln681Ter
  • NP_000242.1:p.Gln681Ter
  • NP_001245210.1:p.Gln615Ter
  • LRG_218t1:c.2041C>T
  • LRG_218:g.78279C>T
  • LRG_218p1:p.Gln681Ter
  • NC_000002.11:g.47703541C>T
  • NM_000251.1:c.2041C>T
  • NM_000251.2:c.2041C>T
Protein change:
Q615*
Links:
dbSNP: rs730881762
NCBI 1000 Genomes Browser:
rs730881762
Molecular consequence:
  • NM_000251.3:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258281.1:c.1843C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary nonpolyposis colorectal neoplasms
Identifiers:
MeSH: D003123; MedGen: C0009405

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000625340Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 23, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cancer risk in 348 French MSH2 or MLH1 gene carriers.

Parc Y, Boisson C, Thomas G, Olschwang S.

J Med Genet. 2003 Mar;40(3):208-13. No abstract available.

PubMed [citation]
PMID:
12624141
PMCID:
PMC1735402

Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Liu Y, Chew MH, Goh XW, Tan SY, Loi CT, Tan YM, Law HY, Koh PK, Tang CL.

PLoS One. 2014;9(4):e94170. doi: 10.1371/journal.pone.0094170.

PubMed [citation]
PMID:
24710284
PMCID:
PMC3978005
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000625340.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 428498). This premature translational stop signal has been observed in individual(s) with hereditary non-polyposis colorectal cancer (PMID: 12624141, 24710284). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln681*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816).

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

Last Updated: Jun 9, 2024