NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 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:: RCV000656871.7

Allele description [Variation Report for NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)]

NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)

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.97A>C (p.Thr33Pro)

HGVS:

NC_000002.12:g.47403288A>C
NG_007110.2:g.5165A>C
NM_000251.3:c.97A>CMANE SELECT
NM_001258281.1:c.-30-72A>C
NP_000242.1:p.Thr33Pro
NP_000242.1:p.Thr33Pro
LRG_218t1:c.97A>C
LRG_218:g.5165A>C
LRG_218p1:p.Thr33Pro
NC_000002.11:g.47630427A>C
NM_000251.1:c.97A>C
NM_000251.2:c.97A>C
P43246:p.Thr33Pro
p.T33P

Protein change:

T33P

Links:

UniProtKB: P43246#VAR_043738; dbSNP: rs63751107

NCBI 1000 Genomes Browser:

rs63751107

Molecular consequence:

NM_001258281.1:c.-30-72A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000251.3:c.97A>C - 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
SCV000292614	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292614

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 14, 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, SCV000292614.16

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

Description

Published functional studies demonstrate no damaging effect: interaction with MSH6, expression in colon carcinoma cells, protein stability, mismatch binding, mismatch repair activity, and cell survival similar to wild type (PMID: 17101317, 18951462, 20176959, 30998989, 33357406, 26951660); Observed in patients with Lynch-related cancers; however, available tumor studies were inconsistent (PMID: 16885385, 25559809, 17101317, 32634176); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17594722, 17101317, 18951462, 25559809, 22949387, 21120944, 16237223, 16885385, 17370310, 18383312, 20176959, 26951660, 30998989, 33357406, 35688932, 32634176, 26580448, 31391288, 32885271, 18822302)

#	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: Sep 16, 2024

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