NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) AND Lynch syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 5, 2013
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000076411.10

Allele description [Variation Report for NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)]

NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)

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.2152C>T (p.Gln718Ter)

HGVS:

NC_000002.12:g.47476513C>T
NG_007110.2:g.78390C>T
NM_000251.3:c.2152C>TMANE SELECT
NM_001258281.1:c.1954C>T
NP_000242.1:p.Gln718Ter
NP_000242.1:p.Gln718Ter
NP_001245210.1:p.Gln652Ter
LRG_218t1:c.2152C>T
LRG_218:g.78390C>T
LRG_218p1:p.Gln718Ter
NC_000002.11:g.47703652C>T
NM_000251.1:c.2152C>T
NM_000251.2:c.2152C>T
p.Gln718*

Protein change:

Q652*

Links:

dbSNP: rs587779139

NCBI 1000 Genomes Browser:

rs587779139

Molecular consequence:

NM_000251.3:c.2152C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258281.1:c.1954C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000107440	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v1.9)	Pathogenic (Sep 5, 2013)	germline	research	Citation Link,
SCV000837850	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (Jul 2, 2018)	unknown	clinical testing	Citation Link,
SCV000914305	A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center	criteria provided, single submitter (Carneiro da Silva F et al. (PLoS One 2015))	Pathogenic (Jan 30, 2019)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000107440

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

Citation Link,

SCV000837850

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(Jul 2, 2018)

unknown

clinical testing

Citation Link,

SCV000914305

A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center

criteria provided, single submitter

(Carneiro da Silva F et al. (PLoS One 2015))

Pathogenic
(Jan 30, 2019)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	6	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

Carneiro da Silva F, Ferreira JR, Torrezan GT, Figueiredo MC, Santos ÉM, Nakagawa WT, Brianese RC, Petrolini de Oliveira L, Begnani MD, Aguiar-Junior S, Rossi BM, Ferreira Fde O, Carraro DM.

PLoS One. 2015;10(10):e0139753. doi: 10.1371/journal.pone.0139753.

PubMed [citation]

PMID:: 26437257
PMCID:: PMC4593564

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107440.3

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

Description

Coding sequence variation introducing premature termination codon

#	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

From Mendelics, SCV000837850.2

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

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

From A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center, SCV000914305.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	research	PubMed (1)

#	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		6	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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