NM_000249.4(MLH1):c.453+1G>T AND Lynch syndrome II

Clinical significance:Pathogenic (Last evaluated: Dec 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576794.1

Allele description [Variation Report for NM_000249.4(MLH1):c.453+1G>T]

NM_000249.4(MLH1):c.453+1G>T

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.453+1G>T
HGVS:
  • NC_000003.12:g.37007064G>T
  • NG_007109.2:g.18715G>T
  • NM_000249.4:c.453+1G>TMANE SELECT
  • NM_001167617.3:c.159+1G>T
  • NM_001167618.3:c.-271+1G>T
  • NM_001167619.3:c.-179+1G>T
  • NM_001258271.2:c.453+1G>T
  • NM_001258273.2:c.-271+1G>T
  • NM_001258274.3:c.-271+1G>T
  • NM_001354615.2:c.-179+1G>T
  • NM_001354616.2:c.-179+1G>T
  • NM_001354617.2:c.-271+1G>T
  • NM_001354618.2:c.-271+1G>T
  • NM_001354619.2:c.-271+1G>T
  • NM_001354620.2:c.159+1G>T
  • NM_001354621.2:c.-364+1G>T
  • NM_001354622.2:c.-477+1G>T
  • NM_001354623.2:c.-477+1G>T
  • NM_001354624.2:c.-374+1G>T
  • NM_001354625.2:c.-282+1G>T
  • NM_001354626.2:c.-374+1G>T
  • NM_001354627.2:c.-374+1G>T
  • NM_001354628.2:c.453+1G>T
  • NM_001354629.2:c.354+1G>T
  • NM_001354630.2:c.453+1G>T
  • LRG_216t1:c.453+1G>T
  • LRG_216:g.18715G>T
  • NC_000003.11:g.37048555G>T
  • NM_000249.3:c.453+1G>T
Links:
dbSNP: rs267607750
NCBI 1000 Genomes Browser:
rs267607750
Molecular consequence:
  • NM_000249.4:c.453+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167617.3:c.159+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167618.3:c.-271+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167619.3:c.-179+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258271.2:c.453+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258273.2:c.-271+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258274.3:c.-271+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354615.2:c.-179+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354616.2:c.-179+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354617.2:c.-271+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354618.2:c.-271+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354619.2:c.-271+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354620.2:c.159+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354621.2:c.-364+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354622.2:c.-477+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354623.2:c.-477+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354624.2:c.-374+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354625.2:c.-282+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354626.2:c.-374+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354627.2:c.-374+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354628.2:c.453+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354629.2:c.354+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354630.2:c.453+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000677752Counsylcriteria provided, single submitter
Pathogenic
(Dec 13, 2016)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families.

Fu L, Sheng JQ, Li XO, Jin P, Mu H, Han M, Huang JS, Sun ZQ, Li AQ, Wu ZT, Li SR.

Cell Oncol (Dordr). 2013 Jun;36(3):225-31. doi: 10.1007/s13402-013-0130-z. Epub 2013 May 3.

PubMed [citation]
PMID:
23640085

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A.

World J Gastroenterol. 2015 Apr 14;21(14):4136-49. doi: 10.3748/wjg.v21.i14.4136.

PubMed [citation]
PMID:
25892863
PMCID:
PMC4394074
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000677752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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