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NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) AND Lynch syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 2017
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:
RCV000601053.4

Allele description [Variation Report for NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)]

NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)
HGVS:
  • NC_000002.12:g.47800402G>T
  • NG_007111.1:g.22256G>T
  • NM_000179.3:c.2419G>TMANE SELECT
  • NM_001281492.2:c.2029G>T
  • NM_001281493.2:c.1513G>T
  • NM_001281494.2:c.1513G>T
  • NP_000170.1:p.Glu807Ter
  • NP_000170.1:p.Glu807Ter
  • NP_001268421.1:p.Glu677Ter
  • NP_001268422.1:p.Glu505Ter
  • NP_001268423.1:p.Glu505Ter
  • LRG_219t1:c.2419G>T
  • LRG_219:g.22256G>T
  • LRG_219p1:p.Glu807Ter
  • NC_000002.11:g.48027541G>T
  • NM_000179.2:c.2419G>T
  • p.Glu807X
Protein change:
E505*
Links:
dbSNP: rs587779923
NCBI 1000 Genomes Browser:
rs587779923
Molecular consequence:
  • NM_000179.3:c.2419G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.2029G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

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
SCV000713261Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jul 13, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000713261.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The p.Glu807X variant in MSH6 has not been previously reported in individuals wi th Lynch syndrome and or in large population studies. This nonsense variant lead s to a premature termination codon at position 807, which is predicted to lead t o a truncated or absent protein. Heterozygous loss of function of the MSH6 gene is an established disease mechanism in Lynch syndrome. In summary, this variant meets criteria to be classified as pathogenic for Lynch syndrome in an autosomal dominant manner based upon predicted impact on the protein and absence from con trols.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Oct 8, 2024