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NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser) AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 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:
RCV000627714.8

Allele description [Variation Report for NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)]

NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)

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.2420C>G (p.Thr807Ser)
HGVS:
  • NC_000002.12:g.47478481C>G
  • NG_007110.2:g.80358C>G
  • NM_000251.3:c.2420C>GMANE SELECT
  • NM_001258281.1:c.2222C>G
  • NP_000242.1:p.Thr807Ser
  • NP_000242.1:p.Thr807Ser
  • NP_001245210.1:p.Thr741Ser
  • LRG_218t1:c.2420C>G
  • LRG_218:g.80358C>G
  • LRG_218p1:p.Thr807Ser
  • NC_000002.11:g.47705620C>G
  • NM_000251.1:c.2420C>G
  • NM_000251.2:c.2420C>G
  • P43246:p.Thr807Ser
Protein change:
T741S
Links:
UniProtKB: P43246#VAR_038029; dbSNP: rs41295294
NCBI 1000 Genomes Browser:
rs41295294
Molecular consequence:
  • NM_000251.3:c.2420C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.2222C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000284151Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 27, 2023)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG.

Hum Mutat. 2008 Mar;29(3):367-74.

PubMed [citation]
PMID:
18033691

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M.

Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1.

PubMed [citation]
PMID:
27601186
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000284151.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 807 of the MSH2 protein (p.Thr807Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with colorectal cancer (PMID: 18033691, 27601186). ClinVar contains an entry for this variant (Variation ID: 90968). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024