NM_000251.3(MSH2):c.676G>A (p.Glu226Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 18, 2021
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:: RCV002369312.2

Allele description [Variation Report for NM_000251.3(MSH2):c.676G>A (p.Glu226Lys)]

NM_000251.3(MSH2):c.676G>A (p.Glu226Lys)

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.676G>A (p.Glu226Lys)

HGVS:

NC_000002.12:g.47412444G>A
NG_007110.2:g.14321G>A
NM_000251.3:c.676G>AMANE SELECT
NM_001258281.1:c.478G>A
NM_001406631.1:c.676G>A
NM_001406632.1:c.676G>A
NM_001406633.1:c.676G>A
NM_001406634.1:c.676G>A
NM_001406635.1:c.676G>A
NM_001406636.1:c.676G>A
NM_001406637.1:c.676G>A
NM_001406638.1:c.676G>A
NM_001406639.1:c.676G>A
NM_001406640.1:c.676G>A
NM_001406641.1:c.676G>A
NM_001406642.1:c.676G>A
NM_001406643.1:c.676G>A
NM_001406644.1:c.676G>A
NM_001406645.1:c.676G>A
NM_001406646.1:c.676G>A
NM_001406647.1:c.676G>A
NM_001406648.1:c.676G>A
NM_001406649.1:c.676G>A
NM_001406650.1:c.676G>A
NM_001406651.1:c.676G>A
NM_001406652.1:c.676G>A
NM_001406653.1:c.616G>A
NM_001406654.1:c.256G>A
NM_001406655.1:c.676G>A
NM_001406656.1:c.-320G>A
NM_001406657.1:c.676G>A
NM_001406658.1:c.-643G>A
NM_001406659.1:c.-793G>A
NM_001406660.1:c.-990G>A
NM_001406661.1:c.-945G>A
NM_001406662.1:c.-862G>A
NM_001406666.1:c.676G>A
NM_001406669.1:c.-793G>A
NM_001406672.1:c.676G>A
NM_001406674.1:c.676G>A
NP_000242.1:p.Glu226Lys
NP_000242.1:p.Glu226Lys
NP_001245210.1:p.Glu160Lys
NP_001393560.1:p.Glu226Lys
NP_001393561.1:p.Glu226Lys
NP_001393562.1:p.Glu226Lys
NP_001393563.1:p.Glu226Lys
NP_001393564.1:p.Glu226Lys
NP_001393565.1:p.Glu226Lys
NP_001393566.1:p.Glu226Lys
NP_001393567.1:p.Glu226Lys
NP_001393568.1:p.Glu226Lys
NP_001393569.1:p.Glu226Lys
NP_001393570.1:p.Glu226Lys
NP_001393571.1:p.Glu226Lys
NP_001393572.1:p.Glu226Lys
NP_001393573.1:p.Glu226Lys
NP_001393574.1:p.Glu226Lys
NP_001393575.1:p.Glu226Lys
NP_001393576.1:p.Glu226Lys
NP_001393577.1:p.Glu226Lys
NP_001393578.1:p.Glu226Lys
NP_001393579.1:p.Glu226Lys
NP_001393580.1:p.Glu226Lys
NP_001393581.1:p.Glu226Lys
NP_001393582.1:p.Glu206Lys
NP_001393583.1:p.Glu86Lys
NP_001393584.1:p.Glu226Lys
NP_001393586.1:p.Glu226Lys
NP_001393595.1:p.Glu226Lys
NP_001393601.1:p.Glu226Lys
NP_001393603.1:p.Glu226Lys
LRG_218t1:c.676G>A
LRG_218:g.14321G>A
LRG_218p1:p.Glu226Lys
NC_000002.11:g.47639583G>A
NM_000251.1:c.676G>A
NM_000251.2:c.676G>A
NR_176230.1:n.712G>A
NR_176231.1:n.712G>A
NR_176232.1:n.712G>A
NR_176233.1:n.704G>A
NR_176234.1:n.712G>A
NR_176235.1:n.712G>A
NR_176236.1:n.712G>A
NR_176237.1:n.712G>A
NR_176238.1:n.712G>A
NR_176239.1:n.712G>A
NR_176240.1:n.712G>A
NR_176241.1:n.712G>A
NR_176242.1:n.712G>A
NR_176243.1:n.712G>A
NR_176244.1:n.712G>A
NR_176245.1:n.712G>A
NR_176246.1:n.712G>A
NR_176247.1:n.712G>A
NR_176248.1:n.712G>A
NR_176249.1:n.712G>A
NR_176250.1:n.712G>A

Protein change:

E160K

Molecular consequence:

NM_000251.3:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406631.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406632.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406633.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406634.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406635.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406636.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406637.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406638.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406639.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406640.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406641.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406642.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406643.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406644.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406645.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406646.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406647.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406648.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406649.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406650.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406651.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406652.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406653.1:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406654.1:c.256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406655.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406657.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406666.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406672.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406674.1:c.676G>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
SCV002661697	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002661697

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 18, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002661697.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: May 1, 2024

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