NM_000249.4(MLH1):c.117-1G>T AND Lynch syndrome I

Clinical significance:Likely pathogenic (Last evaluated: Jun 13, 2018)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000680196.1

Allele description [Variation Report for NM_000249.4(MLH1):c.117-1G>T]

NM_000249.4(MLH1):c.117-1G>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.117-1G>T
HGVS:
  • NC_000003.12:g.36996618G>T
  • NG_007109.2:g.8269G>T
  • NG_008418.1:g.1687C>A
  • NM_000249.4:c.117-1G>TMANE SELECT
  • NM_001167617.3:c.-173-1G>T
  • NM_001167618.3:c.-602-6G>T
  • NM_001167619.3:c.-515-1G>T
  • NM_001258271.2:c.117-1G>T
  • NM_001258273.2:c.-517+2955G>T
  • NM_001258274.3:c.-752-1G>T
  • NM_001354615.2:c.-510-1G>T
  • NM_001354616.2:c.-510-6G>T
  • NM_001354617.2:c.-602-6G>T
  • NM_001354618.2:c.-607-1G>T
  • NM_001354619.2:c.-607-1G>T
  • NM_001354620.2:c.-168-6G>T
  • NM_001354621.2:c.-700-1G>T
  • NM_001354622.2:c.-813-1G>T
  • NM_001354623.2:c.-723+2728G>T
  • NM_001354624.2:c.-710-1G>T
  • NM_001354625.2:c.-608-6G>T
  • NM_001354626.2:c.-705-6G>T
  • NM_001354627.2:c.-710-1G>T
  • NM_001354628.2:c.117-1G>T
  • NM_001354629.2:c.117-1G>T
  • NM_001354630.2:c.117-1G>T
  • LRG_216t1:c.117-1G>T
  • LRG_216:g.8269G>T
  • NC_000003.11:g.37038109G>T
  • NM_000249.3:c.117-1G>T
Links:
dbSNP: rs587779950
NCBI 1000 Genomes Browser:
rs587779950
Molecular consequence:
  • NM_001167618.3:c.-602-6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.-517+2955G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.-510-6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.-602-6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.-168-6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2728G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-608-6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-705-6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.117-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167617.3:c.-173-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167619.3:c.-515-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258271.2:c.117-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258274.3:c.-752-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354615.2:c.-510-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354618.2:c.-607-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354619.2:c.-607-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354621.2:c.-700-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354622.2:c.-813-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354624.2:c.-710-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354627.2:c.-710-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354628.2:c.117-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354629.2:c.117-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354630.2:c.117-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Lynch syndrome I (COCA1)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807660International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
Likely pathogenic
(Jun 13, 2018)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000807660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant at IVS±1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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