NM_000249.4(MLH1):c.306+2dup AND Lynch syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 2018
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:: RCV000075629.5

Allele description [Variation Report for NM_000249.4(MLH1):c.306+2dup]

NM_000249.4(MLH1):c.306+2dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.306+2dup

HGVS:

NC_000003.12:g.37001055dup
NG_007109.2:g.12706dup
NM_000249.4:c.306+2dupMANE SELECT
NM_001167617.3:c.12+7dup
NM_001167618.3:c.-418+2dup
NM_001167619.3:c.-326+2dup
NM_001258271.2:c.306+2dup
NM_001258273.2:c.-418+2dup
NM_001258274.3:c.-418+2dup
NM_001354615.2:c.-326+7dup
NM_001354616.2:c.-326+2dup
NM_001354617.2:c.-418+2dup
NM_001354618.2:c.-418+2dup
NM_001354619.2:c.-418+2dup
NM_001354620.2:c.12+7dup
NM_001354621.2:c.-511+2dup
NM_001354622.2:c.-624+2dup
NM_001354623.2:c.-624+2dup
NM_001354624.2:c.-521+2dup
NM_001354625.2:c.-429+7dup
NM_001354626.2:c.-521+2dup
NM_001354627.2:c.-521+2dup
NM_001354628.2:c.306+2dup
NM_001354629.2:c.208-3346dup
NM_001354630.2:c.306+2dup
LRG_216t1:c.306+2dup
LRG_216:g.12706dup
NC_000003.11:g.37042546dup
NM_000249.3:c.306+2dup
NM_000249.3:c.306+2dupT

Links:

dbSNP: rs267607738

NCBI 1000 Genomes Browser:

rs267607738

Molecular consequence:

NM_001167617.3:c.12+7dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.-326+7dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.12+7dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-429+7dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.208-3346dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.306+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001167618.3:c.-418+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001167619.3:c.-326+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001258271.2:c.306+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001258273.2:c.-418+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001258274.3:c.-418+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354616.2:c.-326+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354617.2:c.-418+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354618.2:c.-418+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354619.2:c.-418+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354621.2:c.-511+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354622.2:c.-624+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354623.2:c.-624+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354624.2:c.-521+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354626.2:c.-521+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354627.2:c.-521+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354628.2:c.306+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354630.2:c.306+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Lynch syndrome 1
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000106631	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v2.4)	Pathogenic (Jun 13, 2018)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000106631

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v2.4)

Pathogenic
(Jun 13, 2018)

germline

curation

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	curation

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106631.4

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

Description

Variant at IVSÂ±2

#	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: Jun 23, 2024

ClinVar

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