U.S. flag

An official website of the United States government

NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 1, 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:
RCV000573758.4

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 cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000669834Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Sep 1, 2023)
germlineclinical testing

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

Citation Link

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

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113. Epub 2016 Mar 7.

PubMed [citation]
PMID:
26951660
PMCID:
PMC4839441
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000669834.6

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024