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NM_000249.4(MLH1):c.117-43_117-39del AND Lynch syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 5, 2013
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:
RCV000075137.4

Allele description [Variation Report for NM_000249.4(MLH1):c.117-43_117-39del]

NM_000249.4(MLH1):c.117-43_117-39del

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.117-43_117-39del
HGVS:
  • NC_000003.12:g.36996576_36996580del
  • NG_007109.2:g.8227_8231del
  • NG_008418.1:g.1728_1732del
  • NM_000249.4:c.117-43_117-39delMANE SELECT
  • NM_001167617.3:c.-173-43_-173-39del
  • NM_001167618.3:c.-602-48_-602-44del
  • NM_001167619.3:c.-515-43_-515-39del
  • NM_001258271.2:c.117-43_117-39del
  • NM_001258273.2:c.-517+2913_-517+2917del
  • NM_001258274.3:c.-752-43_-752-39del
  • NM_001354615.2:c.-510-43_-510-39del
  • NM_001354616.2:c.-510-48_-510-44del
  • NM_001354617.2:c.-602-48_-602-44del
  • NM_001354618.2:c.-607-43_-607-39del
  • NM_001354619.2:c.-607-43_-607-39del
  • NM_001354620.2:c.-168-48_-168-44del
  • NM_001354621.2:c.-700-43_-700-39del
  • NM_001354622.2:c.-813-43_-813-39del
  • NM_001354623.2:c.-723+2686_-723+2690del
  • NM_001354624.2:c.-710-43_-710-39del
  • NM_001354625.2:c.-608-48_-608-44del
  • NM_001354626.2:c.-705-48_-705-44del
  • NM_001354627.2:c.-710-43_-710-39del
  • NM_001354628.2:c.117-43_117-39del
  • NM_001354629.2:c.117-43_117-39del
  • NM_001354630.2:c.117-43_117-39del
  • LRG_216t1:c.117-43_117-39del
  • LRG_216:g.8227_8231del
  • NC_000003.11:g.37038064_37038068del
  • NC_000003.11:g.37038067_37038071del
  • NM_000249.3:c.117-43_117-39del
  • NM_000249.3:c.117-46_117-42delTAGAG
Links:
dbSNP: rs587778895
NCBI 1000 Genomes Browser:
rs587778895
Molecular consequence:
  • NM_000249.4:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.-173-43_-173-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.-602-48_-602-44del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.-515-43_-515-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.-517+2913_-517+2917del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.-752-43_-752-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.-510-43_-510-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.-510-48_-510-44del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.-602-48_-602-44del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.-607-43_-607-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.-607-43_-607-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.-168-48_-168-44del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.-700-43_-700-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.-813-43_-813-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2686_-723+2690del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.-710-43_-710-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-608-48_-608-44del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-705-48_-705-44del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-710-43_-710-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106135International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Likely benign
(Sep 5, 2013) 		germlineresearch

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106135.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Intronic substitution with no associated splicing aberration, tested with NMD inhibitors.

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

Last Updated: Sep 29, 2024