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NM_000249.4(MLH1):c.1038+1G>C AND Lynch syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000075082.3

Allele description [Variation Report for NM_000249.4(MLH1):c.1038+1G>C]

NM_000249.4(MLH1):c.1038+1G>C

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.1038+1G>C
HGVS:
  • NC_000003.12:g.37020464G>C
  • NG_007109.2:g.32115G>C
  • NM_000249.4:c.1038+1G>CMANE SELECT
  • NM_001167617.3:c.744+1G>C
  • NM_001167618.3:c.315+1G>C
  • NM_001167619.3:c.315+1G>C
  • NM_001258271.2:c.1038+1G>C
  • NM_001258273.2:c.315+1G>C
  • NM_001258274.3:c.315+1G>C
  • NM_001354615.2:c.315+1G>C
  • NM_001354616.2:c.315+1G>C
  • NM_001354617.2:c.315+1G>C
  • NM_001354618.2:c.315+1G>C
  • NM_001354619.2:c.315+1G>C
  • NM_001354620.2:c.744+1G>C
  • NM_001354621.2:c.15+1G>C
  • NM_001354622.2:c.15+1G>C
  • NM_001354623.2:c.15+1G>C
  • NM_001354624.2:c.-36-5173G>C
  • NM_001354625.2:c.-36-5173G>C
  • NM_001354626.2:c.-36-5173G>C
  • NM_001354627.2:c.-36-5173G>C
  • NM_001354628.2:c.1038+1G>C
  • NM_001354629.2:c.939+1G>C
  • NM_001354630.2:c.1038+1G>C
  • LRG_216t1:c.1038+1G>C
  • LRG_216:g.32115G>C
  • NC_000003.11:g.37061955G>C
  • NM_000249.3:c.1038+1G>C
Links:
dbSNP: rs267607816
NCBI 1000 Genomes Browser:
rs267607816
Molecular consequence:
  • NM_001354624.2:c.-36-5173G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-36-5173G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-36-5173G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-36-5173G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.1038+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167617.3:c.744+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167618.3:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167619.3:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258271.2:c.1038+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258273.2:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258274.3:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354615.2:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354616.2:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354617.2:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354618.2:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354619.2:c.315+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354620.2:c.744+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354621.2:c.15+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354622.2:c.15+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354623.2:c.15+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354628.2:c.1038+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354629.2:c.939+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354630.2:c.1038+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000106071International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v2.4)
Likely pathogenic
(Jun 21, 2019)
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), SCV000106071.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Interrupts canonical donor splice site

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

Last Updated: Jun 9, 2024