NM_000251.3(MSH2):c.900G>A (p.Met300Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2018
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:: RCV000487151.2

Allele description [Variation Report for NM_000251.3(MSH2):c.900G>A (p.Met300Ile)]

NM_000251.3(MSH2):c.900G>A (p.Met300Ile)

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.900G>A (p.Met300Ile)

HGVS:

NC_000002.12:g.47414376G>A
NG_007110.2:g.16253G>A
NM_000251.3:c.900G>AMANE SELECT
NM_001258281.1:c.702G>A
NP_000242.1:p.Met300Ile
NP_000242.1:p.Met300Ile
NP_001245210.1:p.Met234Ile
LRG_218t1:c.900G>A
LRG_218:g.16253G>A
LRG_218p1:p.Met300Ile
NC_000002.11:g.47641515G>A
NM_000251.1:c.900G>A
NM_000251.2:c.900G>A
p.M300I

Protein change:

M234I

Links:

dbSNP: rs587782530

NCBI 1000 Genomes Browser:

rs587782530

Molecular consequence:

NM_000251.3:c.900G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.702G>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
SCV000565186	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (May 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000565186

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(May 10, 2018)

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, SCV000565186.4

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

Description

This variant is denoted MSH2 c.900G>A at the cDNA level, p.Met300Ile (M300I) at the protein level, and results in the change of a Methionine to an Isoleucine (ATG>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Met300Ile was not observed at a significant allele frequency in large population cohorts (Lek 2016). MSH2 Met300Ile is located in the Lever domain (Lutzen 2008, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available information, it is unclear whether MSH2 Met300Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.

#	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

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