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

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001093692.1

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 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; 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
SCV001250876Ding PR Lab, Sun Yat-sen University Cancer Center
no assertion criteria provided
Pathogenicgermlineclinical testing

Summary from all submissions

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

Details of each submission

From Ding PR Lab, Sun Yat-sen University Cancer Center, SCV001250876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024