NM_000251.3(MSH2):c.658G>T (p.Gly220Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 2022
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:: RCV002364533.2

Allele description [Variation Report for NM_000251.3(MSH2):c.658G>T (p.Gly220Ter)]

NM_000251.3(MSH2):c.658G>T (p.Gly220Ter)

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.658G>T (p.Gly220Ter)

HGVS:

NC_000002.12:g.47412426G>T
NG_007110.2:g.14303G>T
NM_000251.3:c.658G>TMANE SELECT
NM_001258281.1:c.460G>T
NM_001406631.1:c.658G>T
NM_001406632.1:c.658G>T
NM_001406633.1:c.658G>T
NM_001406634.1:c.658G>T
NM_001406635.1:c.658G>T
NM_001406636.1:c.658G>T
NM_001406637.1:c.658G>T
NM_001406638.1:c.658G>T
NM_001406639.1:c.658G>T
NM_001406640.1:c.658G>T
NM_001406641.1:c.658G>T
NM_001406642.1:c.658G>T
NM_001406643.1:c.658G>T
NM_001406644.1:c.658G>T
NM_001406645.1:c.658G>T
NM_001406646.1:c.658G>T
NM_001406647.1:c.658G>T
NM_001406648.1:c.658G>T
NM_001406649.1:c.658G>T
NM_001406650.1:c.658G>T
NM_001406651.1:c.658G>T
NM_001406652.1:c.658G>T
NM_001406653.1:c.598G>T
NM_001406654.1:c.238G>T
NM_001406655.1:c.658G>T
NM_001406656.1:c.-338G>T
NM_001406657.1:c.658G>T
NM_001406658.1:c.-661G>T
NM_001406659.1:c.-811G>T
NM_001406660.1:c.-1008G>T
NM_001406661.1:c.-963G>T
NM_001406662.1:c.-880G>T
NM_001406666.1:c.658G>T
NM_001406669.1:c.-811G>T
NM_001406672.1:c.658G>T
NM_001406674.1:c.658G>T
NP_000242.1:p.Gly220Ter
NP_000242.1:p.Gly220Ter
NP_001245210.1:p.Gly154Ter
NP_001393560.1:p.Gly220Ter
NP_001393561.1:p.Gly220Ter
NP_001393562.1:p.Gly220Ter
NP_001393563.1:p.Gly220Ter
NP_001393564.1:p.Gly220Ter
NP_001393565.1:p.Gly220Ter
NP_001393566.1:p.Gly220Ter
NP_001393567.1:p.Gly220Ter
NP_001393568.1:p.Gly220Ter
NP_001393569.1:p.Gly220Ter
NP_001393570.1:p.Gly220Ter
NP_001393571.1:p.Gly220Ter
NP_001393572.1:p.Gly220Ter
NP_001393573.1:p.Gly220Ter
NP_001393574.1:p.Gly220Ter
NP_001393575.1:p.Gly220Ter
NP_001393576.1:p.Gly220Ter
NP_001393577.1:p.Gly220Ter
NP_001393578.1:p.Gly220Ter
NP_001393579.1:p.Gly220Ter
NP_001393580.1:p.Gly220Ter
NP_001393581.1:p.Gly220Ter
NP_001393582.1:p.Gly200Ter
NP_001393583.1:p.Gly80Ter
NP_001393584.1:p.Gly220Ter
NP_001393586.1:p.Gly220Ter
NP_001393595.1:p.Gly220Ter
NP_001393601.1:p.Gly220Ter
NP_001393603.1:p.Gly220Ter
LRG_218t1:c.658G>T
LRG_218:g.14303G>T
LRG_218p1:p.Gly220Ter
NC_000002.11:g.47639565G>T
NM_000251.1:c.658G>T
NM_000251.2:c.658G>T
NR_176230.1:n.694G>T
NR_176231.1:n.694G>T
NR_176232.1:n.694G>T
NR_176233.1:n.686G>T
NR_176234.1:n.694G>T
NR_176235.1:n.694G>T
NR_176236.1:n.694G>T
NR_176237.1:n.694G>T
NR_176238.1:n.694G>T
NR_176239.1:n.694G>T
NR_176240.1:n.694G>T
NR_176241.1:n.694G>T
NR_176242.1:n.694G>T
NR_176243.1:n.694G>T
NR_176244.1:n.694G>T
NR_176245.1:n.694G>T
NR_176246.1:n.694G>T
NR_176247.1:n.694G>T
NR_176248.1:n.694G>T
NR_176249.1:n.694G>T
NR_176250.1:n.694G>T

Protein change:

G154*

Molecular consequence:

NM_000251.3:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258281.1:c.460G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406631.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406632.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406633.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406634.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406635.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406636.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406637.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406638.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406639.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406640.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406641.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406642.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406643.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406644.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406645.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406646.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406647.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406648.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406649.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406650.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406651.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406652.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406653.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406654.1:c.238G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406655.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406657.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406666.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406672.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406674.1:c.658G>T - nonsense - [Sequence Ontology: SO:0001587]

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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Homo sapiens mitochondrial pyruvate carrier 2 (MPC2), transcript variant 1, mRNA...
Homo sapiens mitochondrial pyruvate carrier 2 (MPC2), transcript variant 1, mRNA; nuclear gene for mitochondrial product
gi|1519243780|ref|NM_001143674.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002664683	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jan 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002664683

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jan 3, 2022)

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, SCV002664683.2

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

Description

The p.G220* pathogenic mutation (also known as c.658G>T), located in coding exon 4 of the MSH2 gene, results from a G to T substitution at nucleotide position 658. This changes the amino acid from a glycine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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