NM_000179.3(MSH6):c.3798_3801+26del AND Lynch syndrome

Germline classification:
Pathogenic (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:
RCV000074930.4

Allele description [Variation Report for NM_000179.3(MSH6):c.3798_3801+26del]

NM_000179.3(MSH6):c.3798_3801+26del

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3798_3801+26del
HGVS:
  • NC_000002.12:g.47806355_47806384del
  • NG_007111.1:g.28209_28238del
  • NG_008397.1:g.104295_104324del
  • NM_000179.3:c.3798_3801+26delMANE SELECT
  • NM_001281492.2:c.3408_3411+26del
  • NM_001281493.2:c.2892_2895+26del
  • NM_001281494.2:c.2892_2895+26del
  • LRG_219t1:c.3798_3801+26del
  • LRG_219:g.28209_28238del
  • NC_000002.11:g.48033494_48033523del
  • NM_000179.2:c.3798_3801+26del
Links:
dbSNP: rs587779291
NCBI 1000 Genomes Browser:
rs587779291
Molecular consequence:
  • NM_000179.3:c.3798_3801+26del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281492.2:c.3408_3411+26del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281493.2:c.2892_2895+26del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281494.2:c.2892_2895+26del - 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
SCV000108143International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Pathogenic
(Sep 5, 2013) 		germlineresearch

Citation Link

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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), SCV000108143.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Coding sequence variation resulting in a stop codon (also interrupts canonical donor splice site)

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

Last Updated: May 7, 2024