NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs) 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:: RCV000076284.4

Allele description [Variation Report for NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs)]

NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs)

HGVS:

NC_000002.12:g.47475046_47475047insCT
NG_007110.2:g.76923_76924insCT
NM_000251.3:c.1781_1782insCTMANE SELECT
NM_001258281.1:c.1583_1584insCT
NP_000242.1:p.Leu595fs
NP_001245210.1:p.Leu529fs
LRG_218:g.76923_76924insCT
NC_000002.11:g.47702185_47702186insCT
NM_000251.1:c.1781_1782insCT

Protein change:

L529fs

Links:

dbSNP: rs267607691

NCBI 1000 Genomes Browser:

rs267607691

Molecular consequence:

NM_000251.3:c.1781_1782insCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.1583_1584insCT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000107305	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

SCV000107305

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), SCV000107305.3

#	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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