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NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) AND MSH6-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2024
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:
RCV004541030.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)]

NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
HGVS:
  • NC_000002.12:g.47806256_47806259del
  • NG_007111.1:g.28110_28113del
  • NG_008397.1:g.104419_104422del
  • NM_000179.3:c.3699_3702delMANE SELECT
  • NM_001281492.2:c.3309_3312del
  • NM_001281493.2:c.2793_2796del
  • NM_001281494.2:c.2793_2796del
  • NP_000170.1:p.Lys1233fs
  • NP_001268421.1:p.Lys1103fs
  • NP_001268422.1:p.Lys931fs
  • NP_001268423.1:p.Lys931fs
  • LRG_219:g.28110_28113del
  • NC_000002.11:g.48033393_48033396del
  • NC_000002.11:g.48033395_48033398del
  • NM_000179.2:c.3699_3702delAGAA
  • NM_000179.3:c.3699_3702del
  • p.K1233NFS*6
  • p.Lys1233Asnfs*6
  • p.Lys1233AsnfsX6
Protein change:
K1103fs
Links:
dbSNP: rs193922343
NCBI 1000 Genomes Browser:
rs193922343
Molecular consequence:
  • NM_000179.3:c.3699_3702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3309_3312del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2793_2796del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2793_2796del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
MSH6-related disorder
Synonyms:
MSH6-related disorders; MSH6-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004759006PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Feb 14, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004759006.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MSH6 c.3699_3702delAGAA variant is predicted to result in a frameshift and premature protein termination (p.Lys1233Asnfs*6). This variant was reported in individuals with Lynch syndrome (examples, eTable 1. Bonadona V et al 2011. PubMed ID: 21642682; Goldberg Y et al 2014. PubMed ID: 25430799). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/36593/). Frameshift variants in MSH6 are considered pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024