NM_000251.3(MSH2):c.755A>G (p.Gln252Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 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:: RCV001557291.3

Allele description [Variation Report for NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)]

NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)

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.755A>G (p.Gln252Arg)

HGVS:

NC_000002.12:g.47412523A>G
NG_007110.2:g.14400A>G
NM_000251.3:c.755A>GMANE SELECT
NM_001258281.1:c.557A>G
NP_000242.1:p.Gln252Arg
NP_000242.1:p.Gln252Arg
NP_001245210.1:p.Gln186Arg
LRG_218t1:c.755A>G
LRG_218:g.14400A>G
LRG_218p1:p.Gln252Arg
NC_000002.11:g.47639662A>G
NM_000251.1:c.755A>G
NM_000251.2:c.755A>G

Protein change:

Q186R

Links:

dbSNP: rs370906735

NCBI 1000 Genomes Browser:

rs370906735

Molecular consequence:

NM_000251.3:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001779026	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 8, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001779026

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 8, 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, SCV001779026.2

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

Description

Observed in an individual with breast cancer (PMID: 25186627); Published functional studies suggest a neutral effect: demonstrates sensitivity to 6-TG and mismatch repair (MMR) function similar to wild-type (PMID: 33357406); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25186627, 33357406, 18822302, 21120944)

#	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 29, 2024

ClinVar

Relating variation to medicine