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NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 26, 2022
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:
RCV002438757.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)]

NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)

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.2549A>G (p.Glu850Gly)
HGVS:
  • NC_000002.12:g.47480786A>G
  • NG_007110.2:g.82663A>G
  • NM_000251.3:c.2549A>GMANE SELECT
  • NM_001258281.1:c.2351A>G
  • NP_000242.1:p.Glu850Gly
  • NP_001245210.1:p.Glu784Gly
  • LRG_218t1:c.2549A>G
  • LRG_218:g.82663A>G
  • NC_000002.11:g.47707925A>G
  • NM_000251.1:c.2549A>G
  • NM_000251.2:c.2549A>G
Protein change:
E784G
Links:
dbSNP: rs1667497027
NCBI 1000 Genomes Browser:
rs1667497027
Molecular consequence:
  • NM_000251.3:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.2351A>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002745072Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 26, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening.

Lu T, Zhou S, Wu H, Forgetta V, Greenwood CMT, Richards JB.

Genet Med. 2021 Mar;23(3):508-515. doi: 10.1038/s41436-020-01007-7. Epub 2020 Oct 28.

PubMed [citation]
PMID:
33110269

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X, Burugula BB, Chen V, Lemons RM, Jayakody S, Maksutova M, Kitzman JO.

Am J Hum Genet. 2021 Jan 7;108(1):163-175. doi: 10.1016/j.ajhg.2020.12.003. Epub 2020 Dec 23.

PubMed [citation]
PMID:
33357406
PMCID:
PMC7820803

Details of each submission

From Ambry Genetics, SCV002745072.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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