NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 18, 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:: RCV000236371.4

Allele description [Variation Report for NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)]

NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)

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.118G>A (p.Gly40Ser)

HGVS:

NC_000002.12:g.47403309G>A
NG_007110.2:g.5186G>A
NM_000251.3:c.118G>AMANE SELECT
NM_001258281.1:c.-30-51G>A
NP_000242.1:p.Gly40Ser
NP_000242.1:p.Gly40Ser
LRG_218t1:c.118G>A
LRG_218:g.5186G>A
LRG_218p1:p.Gly40Ser
NC_000002.11:g.47630448G>A
NM_000251.1:c.118G>A
NM_000251.2:c.118G>A
P43246:p.Gly40Ser

Protein change:

G40S

Links:

UniProtKB: P43246#VAR_043739; dbSNP: rs63751260

NCBI 1000 Genomes Browser:

rs63751260

Molecular consequence:

NM_001258281.1:c.-30-51G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000251.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293503	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293503

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 18, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293503.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Identified in patients with colorectal cancer, polyps, or other cancer, including some individuals whose tumors demonstrate microsatellite instability and/or absent MSH2 protein staining (Yamada et al., 2003; Yamada et al., 2010; Kochi et al., 2015; Kiyozumi et al., 2019; Terashima et al., 2019; Hata et al., 2021; Takao et al., 2021); This variant is associated with the following publications: (PMID: 12792735, 26380806, 18383312, 32566746, 18822302, 21120944, 20043121, 31386297, 31666926, 34106356, 34755017)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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