NM_000249.4(MLH1):c.1897-17C>G AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:: Likely benign (2 submissions)
Last evaluated:: May 28, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000987187.9

Allele description [Variation Report for NM_000249.4(MLH1):c.1897-17C>G]

NM_000249.4(MLH1):c.1897-17C>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.1897-17C>G

Other names:

IVS16-17C>G

HGVS:

NC_000003.12:g.37048500C>G
NG_007109.2:g.60151C>G
NM_000249.4:c.1897-17C>GMANE SELECT
NM_001167617.3:c.1603-17C>G
NM_001167618.3:c.1174-17C>G
NM_001167619.3:c.1174-17C>G
NM_001258271.2:c.1896+817C>G
NM_001258273.2:c.1174-17C>G
NM_001258274.3:c.1174-17C>G
NM_001354615.2:c.1174-17C>G
NM_001354616.2:c.1174-17C>G
NM_001354617.2:c.1174-17C>G
NM_001354618.2:c.1174-17C>G
NM_001354619.2:c.1174-17C>G
NM_001354620.2:c.1603-17C>G
NM_001354621.2:c.874-17C>G
NM_001354622.2:c.874-17C>G
NM_001354623.2:c.874-17C>G
NM_001354624.2:c.823-17C>G
NM_001354625.2:c.823-17C>G
NM_001354626.2:c.823-17C>G
NM_001354627.2:c.823-17C>G
NM_001354628.2:c.1897-404C>G
NM_001354629.2:c.1798-17C>G
NM_001354630.2:c.1732-17C>G
LRG_216t1:c.1897-17C>G
LRG_216:g.60151C>G
NC_000003.11:g.37089991C>G
NM_000249.3:c.1897-17C>G

Links:

dbSNP: rs2308316

NCBI 1000 Genomes Browser:

rs2308316

Molecular consequence:

NM_000249.4:c.1897-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.1603-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.1896+817C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.1174-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.1603-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.874-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.874-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.874-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.823-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.823-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.823-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.823-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.1897-404C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.1798-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.1732-17C>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001136429	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001440720	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001136429

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV001440720

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 1, 2019)

unknown

clinical testing

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

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
not provided	unknown	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mendelics, SCV001136429.1

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

#	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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001440720.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine