NM_000251.3(MSH2):c.814G>A (p.Ala272Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 18, 2019
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:: RCV002422667.2

Allele description [Variation Report for NM_000251.3(MSH2):c.814G>A (p.Ala272Thr)]

NM_000251.3(MSH2):c.814G>A (p.Ala272Thr)

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.814G>A (p.Ala272Thr)

HGVS:

NC_000002.12:g.47414290G>A
NG_007110.2:g.16167G>A
NM_000251.3:c.814G>AMANE SELECT
NM_001258281.1:c.616G>A
NP_000242.1:p.Ala272Thr
NP_001245210.1:p.Ala206Thr
LRG_218:g.16167G>A
NC_000002.11:g.47641429G>A
NM_000251.1:c.814G>A

Protein change:

A206T

Links:

dbSNP: rs1558463956

NCBI 1000 Genomes Browser:

rs1558463956

Molecular consequence:

NM_000251.3:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.616G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002680309	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 18, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002680309

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 18, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional analysis of HNPCC-related missense mutations in MSH2.

Lützen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ.

Mutat Res. 2008 Oct 14;645(1-2):44-55. doi: 10.1016/j.mrfmmm.2008.08.015. Epub 2008 Sep 4.

PubMed [citation]

PMID:: 18822302

Details of each submission

From Ambry Genetics, SCV002680309.2

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

Description

The p.A272T variant (also known as c.814G>A), located in coding exon 5 of the MSH2 gene, results from a G to A substitution at nucleotide position 814. The alanine at codon 272 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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