NM_000251.3(MSH2):c.1768G>A (p.Glu590Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2020
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:: RCV002401767.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1768G>A (p.Glu590Lys)]

NM_000251.3(MSH2):c.1768G>A (p.Glu590Lys)

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.1768G>A (p.Glu590Lys)

HGVS:

NC_000002.12:g.47475033G>A
NG_007110.2:g.76910G>A
NM_000251.3:c.1768G>AMANE SELECT
NM_001258281.1:c.1570G>A
NM_001406631.1:c.1768G>A
NM_001406632.1:c.1768G>A
NM_001406633.1:c.1768G>A
NM_001406634.1:c.1768G>A
NM_001406635.1:c.1768G>A
NM_001406636.1:c.1735G>A
NM_001406637.1:c.1768G>A
NM_001406638.1:c.1807G>A
NM_001406639.1:c.1768G>A
NM_001406640.1:c.1768G>A
NM_001406641.1:c.1768G>A
NM_001406642.1:c.1768G>A
NM_001406643.1:c.1768G>A
NM_001406644.1:c.1768G>A
NM_001406645.1:c.1768G>A
NM_001406646.1:c.1768G>A
NM_001406647.1:c.1618G>A
NM_001406648.1:c.1768G>A
NM_001406649.1:c.1618G>A
NM_001406650.1:c.1618G>A
NM_001406651.1:c.1618G>A
NM_001406652.1:c.1618G>A
NM_001406653.1:c.1708G>A
NM_001406654.1:c.1348G>A
NM_001406655.1:c.1768G>A
NM_001406656.1:c.871G>A
NM_001406657.1:c.1670G>A
NM_001406658.1:c.412G>A
NM_001406659.1:c.412G>A
NM_001406660.1:c.412G>A
NM_001406661.1:c.412G>A
NM_001406662.1:c.412G>A
NM_001406669.1:c.412G>A
NM_001406674.1:c.1768G>A
NP_000242.1:p.Glu590Lys
NP_000242.1:p.Glu590Lys
NP_001245210.1:p.Glu524Lys
NP_001393560.1:p.Glu590Lys
NP_001393561.1:p.Glu590Lys
NP_001393562.1:p.Glu590Lys
NP_001393563.1:p.Glu590Lys
NP_001393564.1:p.Glu590Lys
NP_001393565.1:p.Glu579Lys
NP_001393566.1:p.Glu590Lys
NP_001393567.1:p.Glu603Lys
NP_001393568.1:p.Glu590Lys
NP_001393569.1:p.Glu590Lys
NP_001393570.1:p.Glu590Lys
NP_001393571.1:p.Glu590Lys
NP_001393572.1:p.Glu590Lys
NP_001393573.1:p.Glu590Lys
NP_001393574.1:p.Glu590Lys
NP_001393575.1:p.Glu590Lys
NP_001393576.1:p.Glu540Lys
NP_001393577.1:p.Glu590Lys
NP_001393578.1:p.Glu540Lys
NP_001393579.1:p.Glu540Lys
NP_001393580.1:p.Glu540Lys
NP_001393581.1:p.Glu540Lys
NP_001393582.1:p.Glu570Lys
NP_001393583.1:p.Glu450Lys
NP_001393584.1:p.Glu590Lys
NP_001393585.1:p.Glu291Lys
NP_001393586.1:p.Arg557Lys
NP_001393587.1:p.Glu138Lys
NP_001393588.1:p.Glu138Lys
NP_001393589.1:p.Glu138Lys
NP_001393590.1:p.Glu138Lys
NP_001393591.1:p.Glu138Lys
NP_001393598.1:p.Glu138Lys
NP_001393603.1:p.Glu590Lys
LRG_218t1:c.1768G>A
LRG_218:g.76910G>A
LRG_218p1:p.Glu590Lys
NC_000002.11:g.47702172G>A
NM_000251.1:c.1768G>A
NM_000251.2:c.1768G>A
NR_176230.1:n.1804G>A
NR_176231.1:n.1804G>A
NR_176232.1:n.1804G>A
NR_176233.1:n.1646G>A
NR_176234.1:n.1804G>A
NR_176235.1:n.1804G>A
NR_176236.1:n.1804G>A
NR_176237.1:n.1804G>A
NR_176238.1:n.1937G>A
NR_176239.1:n.1804G>A
NR_176240.1:n.1804G>A
NR_176241.1:n.1804G>A
NR_176242.1:n.1804G>A
NR_176243.1:n.1654G>A
NR_176244.1:n.1804G>A
NR_176245.1:n.1804G>A
NR_176246.1:n.1804G>A
NR_176247.1:n.1804G>A
NR_176248.1:n.1804G>A
NR_176249.1:n.2034G>A
NR_176250.1:n.1544G>A

Protein change:

E138K

Molecular consequence:

NM_000251.3:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406631.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406632.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406633.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406634.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406635.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406636.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406637.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406638.1:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406639.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406640.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406641.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406642.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406643.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406644.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406645.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406646.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406647.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406648.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406649.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406650.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406651.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406652.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406653.1:c.1708G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406654.1:c.1348G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406655.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406656.1:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406657.1:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406658.1:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406659.1:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406660.1:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406661.1:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406662.1:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406669.1:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406674.1:c.1768G>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
SCV002711803	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002711803

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2020)

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, SCV002711803.2

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

Description

The p.E590K variant (also known as c.1768G>A), located in coding exon 12 of the MSH2 gene, results from a G to A substitution at nucleotide position 1768. The glutamic acid at codon 590 is replaced by lysine, an amino acid with similar properties. This amino acid position is well 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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