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NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) AND Charcot-Marie-Tooth disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2015
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:
RCV000192252.1

Allele description

NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)

Gene:
HSPB8:heat shock protein family B (small) member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.23
Genomic location:
Preferred name:
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)
Other names:
K141E
HGVS:
  • NC_000012.12:g.119187078A>G
  • NG_007953.2:g.13289A>G
  • NM_014365.2:c.421A>G
  • NP_055180.1:p.Lys141Glu
  • NP_055180.1:p.Lys141Glu
  • LRG_249t1:c.421A>G
  • LRG_249:g.13289A>G
  • LRG_249p1:p.Lys141Glu
  • NC_000012.11:g.119624883A>G
  • Q9UJY1:p.Lys141Glu
Protein change:
LYS141GLU
Links:
UniProtKB: Q9UJY1#VAR_018504; OMIM: 608014.0002; dbSNP: rs104894351
NCBI 1000 Genomes Browser:
rs104894351
Molecular consequence:
  • NM_014365.2:c.421A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239900GeneReviews
no assertion criteria provided
Pathogenic
(Apr 30, 2015) 		germlineliterature only

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000239900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021