NM_000249.4(MLH1):c.1990-2A>G AND Lynch syndrome

This record was updated by the submitter. Please see the current version.

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:: RCV000075469.2

Allele description

NM_000249.4(MLH1):c.1990-2A>G

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1990-2A>G

HGVS:

NC_000003.12:g.37048902A>G
NG_007109.2:g.60553A>G
NM_000249.4:c.1990-2A>GMANE SELECT
NM_001167617.3:c.1696-2A>G
NM_001167618.3:c.1267-2A>G
NM_001167619.3:c.1267-2A>G
NM_001258271.2:c.1896+1219A>G
NM_001258273.2:c.1267-2A>G
NM_001258274.3:c.1267-2A>G
NM_001354615.2:c.1267-2A>G
NM_001354616.2:c.1267-2A>G
NM_001354617.2:c.1267-2A>G
NM_001354618.2:c.1267-2A>G
NM_001354619.2:c.1267-2A>G
NM_001354620.2:c.1696-2A>G
NM_001354621.2:c.967-2A>G
NM_001354622.2:c.967-2A>G
NM_001354623.2:c.967-2A>G
NM_001354624.2:c.916-2A>G
NM_001354625.2:c.916-2A>G
NM_001354626.2:c.916-2A>G
NM_001354627.2:c.916-2A>G
NM_001354628.2:c.1897-2A>G
NM_001354629.2:c.1891-2A>G
NM_001354630.2:c.1825-2A>G
LRG_216t1:c.1990-2A>G
LRG_216:g.60553A>G
NC_000003.11:g.37090393A>G
NM_000249.3:c.1990-2A>G

Links:

dbSNP: rs267607883

NCBI 1000 Genomes Browser:

rs267607883

Molecular consequence:

NM_001258271.2:c.1896+1219A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.1990-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001167617.3:c.1696-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001167618.3:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001167619.3:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001258273.2:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001258274.3:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354615.2:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354616.2:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354617.2:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354618.2:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354619.2:c.1267-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354620.2:c.1696-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354621.2:c.967-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354622.2:c.967-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354623.2:c.967-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354624.2:c.916-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354625.2:c.916-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354626.2:c.916-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354627.2:c.916-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354628.2:c.1897-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354629.2:c.1891-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354630.2:c.1825-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000106467	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

SCV000106467

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

Citation Link

Description

Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs: SCV000106467

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), SCV000106467.2

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

Description

Interrupts canonical acceptor splice site

#	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: Dec 17, 2022

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