NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 22, 2017
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:: RCV000520788.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)]

NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)

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.2041C>T (p.Gln681Ter)

HGVS:

NC_000002.12:g.47476402C>T
NG_007110.2:g.78279C>T
NM_000251.3:c.2041C>TMANE SELECT
NM_001258281.1:c.1843C>T
NP_000242.1:p.Gln681Ter
NP_000242.1:p.Gln681Ter
NP_001245210.1:p.Gln615Ter
LRG_218t1:c.2041C>T
LRG_218:g.78279C>T
LRG_218p1:p.Gln681Ter
NC_000002.11:g.47703541C>T
NM_000251.1:c.2041C>T
NM_000251.2:c.2041C>T

Protein change:

Q615*

Links:

dbSNP: rs730881762

NCBI 1000 Genomes Browser:

rs730881762

Molecular consequence:

NM_000251.3:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258281.1:c.1843C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617592	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 22, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617592

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 22, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000617592.1

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

Description

This variant is denoted MSH2 c.2041C>T at the cDNA level and p.Gln681Ter (Q681X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been reported at least one family meeting modified Amsterdam criteria for Lynch syndrome(Parc 2003) and is considered pathogenic

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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