NM_000249.4(MLH1):c.677+5G>A AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 17, 2023
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:: RCV003452759.1

Allele description [Variation Report for NM_000249.4(MLH1):c.677+5G>A]

NM_000249.4(MLH1):c.677+5G>A

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.677+5G>A

HGVS:

NC_000003.12:g.37012104G>A
NG_007109.2:g.23755G>A
NM_000249.4:c.677+5G>AMANE SELECT
NM_001167617.3:c.383+5G>A
NM_001167618.3:c.-47+5G>A
NM_001167619.3:c.-47+5G>A
NM_001258271.2:c.677+5G>A
NM_001258273.2:c.-47+5G>A
NM_001258274.3:c.-47+5G>A
NM_001354615.2:c.-47+5G>A
NM_001354616.2:c.-47+5G>A
NM_001354617.2:c.-47+5G>A
NM_001354618.2:c.-47+5G>A
NM_001354619.2:c.-47+5G>A
NM_001354620.2:c.383+5G>A
NM_001354621.2:c.-140+5G>A
NM_001354622.2:c.-253+5G>A
NM_001354623.2:c.-253+5G>A
NM_001354624.2:c.-150+5G>A
NM_001354625.2:c.-150+5G>A
NM_001354626.2:c.-150+5G>A
NM_001354627.2:c.-150+5G>A
NM_001354628.2:c.677+5G>A
NM_001354629.2:c.578+5G>A
NM_001354630.2:c.677+5G>A
LRG_216t1:c.677+5G>A
LRG_216:g.23755G>A
NC_000003.11:g.37053595G>A
NM_000249.3:c.677+5G>A

Links:

dbSNP: rs587779034

NCBI 1000 Genomes Browser:

rs587779034

Molecular consequence:

NM_000249.4:c.677+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.383+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.677+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.-47+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.383+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.-140+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.-253+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-253+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-150+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-150+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-150+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-150+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.677+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.578+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.677+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004190060	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 17, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004190060

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jul 17, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.

Krüger S, Plaschke J, Jeske B, Görgens H, Pistorius SR, Bier A, Kreuz FR, Theissig F, Aust DE, Saeger HD, Schackert HK.

Hum Mutat. 2003 Apr;21(4):445-6.

PubMed [citation]

PMID:: 12655562

Details of each submission

From Myriad Genetics, Inc., SCV004190060.1

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

Description

This variant is considered pathogenic. Functional studies indicate this variant impacts protein function [PMID: 12655562].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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