NM_000249.4(MLH1):c.1897-2A>G AND Lynch syndrome II

Clinical significance:Likely pathogenic (Last evaluated: Sep 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000662785.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1897-2A>G]

NM_000249.4(MLH1):c.1897-2A>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.1897-2A>G
HGVS:
  • NC_000003.12:g.37048515A>G
  • NG_007109.2:g.60166A>G
  • NM_000249.4:c.1897-2A>GMANE SELECT
  • NM_001167617.3:c.1603-2A>G
  • NM_001167618.3:c.1174-2A>G
  • NM_001167619.3:c.1174-2A>G
  • NM_001258271.2:c.1896+832A>G
  • NM_001258273.2:c.1174-2A>G
  • NM_001258274.3:c.1174-2A>G
  • NM_001354615.2:c.1174-2A>G
  • NM_001354616.2:c.1174-2A>G
  • NM_001354617.2:c.1174-2A>G
  • NM_001354618.2:c.1174-2A>G
  • NM_001354619.2:c.1174-2A>G
  • NM_001354620.2:c.1603-2A>G
  • NM_001354621.2:c.874-2A>G
  • NM_001354622.2:c.874-2A>G
  • NM_001354623.2:c.874-2A>G
  • NM_001354624.2:c.823-2A>G
  • NM_001354625.2:c.823-2A>G
  • NM_001354626.2:c.823-2A>G
  • NM_001354627.2:c.823-2A>G
  • NM_001354628.2:c.1897-389A>G
  • NM_001354629.2:c.1798-2A>G
  • NM_001354630.2:c.1732-2A>G
  • LRG_216t1:c.1897-2A>G
  • LRG_216:g.60166A>G
  • NC_000003.11:g.37090006A>G
  • NM_000249.3:c.1897-2A>G
Links:
dbSNP: rs267607871
NCBI 1000 Genomes Browser:
rs267607871
Molecular consequence:
  • NM_001258271.2:c.1896+832A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.1897-389A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.1897-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167617.3:c.1603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167618.3:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167619.3:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258273.2:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258274.3:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354615.2:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354616.2:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354617.2:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354618.2:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354619.2:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354620.2:c.1603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354621.2:c.874-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354622.2:c.874-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354623.2:c.874-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354624.2:c.823-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354625.2:c.823-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354626.2:c.823-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354627.2:c.823-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354629.2:c.1798-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354630.2:c.1732-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000785594Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 29, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.

J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.

PubMed [citation]
PMID:
28135145
PMCID:
PMC5455355

Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.

Rajkumar T, Soumittra N, Pandey D, Nancy KN, Mahajan V, Majhi U.

Genet Test. 2004 Summer;8(2):157-62.

PubMed [citation]
PMID:
15345113
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000785594.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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