NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer) AND Lynch syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV000076494.4

Allele description [Variation Report for NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)]

NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)

HGVS:

NC_000002.12:g.47480758del
NG_007110.2:g.82635del
NM_000251.3:c.2521delMANE SELECT
NM_001258281.1:c.2323del
NP_000242.1:p.Val840_Ile841insTer
NP_001245210.1:p.Val774_Ile775insTer
LRG_218:g.82635del
NC_000002.11:g.47707897del
NM_000251.1:c.2521del

Links:

dbSNP: rs587779147

NCBI 1000 Genomes Browser:

rs587779147

Molecular consequence:

NM_000251.3:c.2521del - nonsense - [Sequence Ontology: SO:0001587]
NM_001258281.1:c.2323del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

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RecName: Full=TOX high mobility group box family member 4; AltName: Full=Epiderm...
RecName: Full=TOX high mobility group box family member 4; AltName: Full=Epidermal Langerhans cell protein LCP1
gi|342187130|sp|Q8BU11.3|TOX4_MOUSE

Protein
Mus musculus mitogen-activated protein kinase kinase kinase 7 interacting protei...
Mus musculus mitogen-activated protein kinase kinase kinase 7 interacting protein 1, mRNA (cDNA clone IMAGE:5042323), partial cds
gi|20072133|gb|BC027054.1|

Nucleotide
Rattus norvegicus trace amine associated receptor 3 (Taar3) gene, complete cds
Rattus norvegicus trace amine associated receptor 3 (Taar3) gene, complete cds
gi|56068064|gb|AY702317.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000107523	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v1.9)	Pathogenic (Sep 5, 2013)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000107523

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

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	research

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107523.3

#	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

Last Updated: May 7, 2024

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