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NM_000249.4(MLH1):c.207+1_207+2del 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:
RCV000075507.4

Allele description [Variation Report for NM_000249.4(MLH1):c.207+1_207+2del]

NM_000249.4(MLH1):c.207+1_207+2del

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.207+1_207+2del
HGVS:
  • NC_000003.12:g.36996710_36996711del
  • NG_007109.2:g.8361_8362del
  • NG_008418.1:g.1594_1595del
  • NM_000249.4:c.207+1_207+2delMANE SELECT
  • NM_001167617.3:c.-83+1_-83+2del
  • NM_001167618.3:c.-517+1_-517+2del
  • NM_001167619.3:c.-425+1_-425+2del
  • NM_001258271.2:c.207+1_207+2del
  • NM_001258273.2:c.-517+3047_-517+3048del
  • NM_001258274.3:c.-662+1_-662+2del
  • NM_001354615.2:c.-420+1_-420+2del
  • NM_001354616.2:c.-425+1_-425+2del
  • NM_001354617.2:c.-517+1_-517+2del
  • NM_001354618.2:c.-517+1_-517+2del
  • NM_001354619.2:c.-517+1_-517+2del
  • NM_001354620.2:c.-83+1_-83+2del
  • NM_001354621.2:c.-610+1_-610+2del
  • NM_001354622.2:c.-723+1_-723+2del
  • NM_001354623.2:c.-723+2820_-723+2821del
  • NM_001354624.2:c.-620+1_-620+2del
  • NM_001354625.2:c.-523+1_-523+2del
  • NM_001354626.2:c.-620+1_-620+2del
  • NM_001354627.2:c.-620+1_-620+2del
  • NM_001354628.2:c.207+1_207+2del
  • NM_001354629.2:c.207+1_207+2del
  • NM_001354630.2:c.207+1_207+2del
  • LRG_216t1:c.207+1_207+2del
  • LRG_216:g.8361_8362del
  • NC_000003.11:g.37038201_37038202del
  • NM_000249.3:c.207+1_207+2del
Links:
dbSNP: rs267607719
NCBI 1000 Genomes Browser:
rs267607719
Molecular consequence:
  • NM_001258273.2:c.-517+3047_-517+3048del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2820_-723+2821del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.207+1_207+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167617.3:c.-83+1_-83+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167618.3:c.-517+1_-517+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167619.3:c.-425+1_-425+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258271.2:c.207+1_207+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258274.3:c.-662+1_-662+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354615.2:c.-420+1_-420+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354616.2:c.-425+1_-425+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354617.2:c.-517+1_-517+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354618.2:c.-517+1_-517+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354619.2:c.-517+1_-517+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354620.2:c.-83+1_-83+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354621.2:c.-610+1_-610+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354622.2:c.-723+1_-723+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354624.2:c.-620+1_-620+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354625.2:c.-523+1_-523+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354626.2:c.-620+1_-620+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354627.2:c.-620+1_-620+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354628.2:c.207+1_207+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354629.2:c.207+1_207+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354630.2:c.207+1_207+2del - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106499International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

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

Citation Link

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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), SCV000106499.3

#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: Sep 16, 2024