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NM_000249.4(MLH1):c.1668-13T>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002257131.2

Allele description [Variation Report for NM_000249.4(MLH1):c.1668-13T>C]

NM_000249.4(MLH1):c.1668-13T>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.1668-13T>C
HGVS:
  • NC_000003.12:g.37042255T>C
  • NG_007109.2:g.53906T>C
  • NM_000249.4:c.1668-13T>CMANE SELECT
  • NM_001167617.3:c.1374-13T>C
  • NM_001167618.3:c.945-13T>C
  • NM_001167619.3:c.945-13T>C
  • NM_001258271.2:c.1668-13T>C
  • NM_001258273.2:c.945-13T>C
  • NM_001258274.3:c.945-13T>C
  • NM_001354615.2:c.945-13T>C
  • NM_001354616.2:c.945-13T>C
  • NM_001354617.2:c.945-13T>C
  • NM_001354618.2:c.945-13T>C
  • NM_001354619.2:c.945-13T>C
  • NM_001354620.2:c.1374-13T>C
  • NM_001354621.2:c.645-13T>C
  • NM_001354622.2:c.645-13T>C
  • NM_001354623.2:c.645-13T>C
  • NM_001354624.2:c.594-13T>C
  • NM_001354625.2:c.594-13T>C
  • NM_001354626.2:c.594-13T>C
  • NM_001354627.2:c.594-13T>C
  • NM_001354628.2:c.1668-13T>C
  • NM_001354629.2:c.1569-13T>C
  • NM_001354630.2:c.1668-13T>C
  • LRG_216t1:c.1668-13T>C
  • LRG_216:g.53906T>C
  • NC_000003.11:g.37083746T>C
  • NM_000249.3:c.1668-13T>C
Links:
dbSNP: rs2084799747
NCBI 1000 Genomes Browser:
rs2084799747
Molecular consequence:
  • NM_000249.4:c.1668-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.1374-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.1668-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.945-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.1374-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.645-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.645-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.645-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.594-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.594-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.594-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.594-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.1668-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.1569-13T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.1668-13T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002528665Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Sep 20, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002528665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024