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NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 2022
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:
RCV002472922.10

Allele description [Variation Report for NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)]

NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)

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_014365.3(HSPB8):c.423G>T (p.Lys141Asn)
Other names:
HSPB8, 423G-T, LYS141ASN; K141N
HGVS:
  • NC_000012.12:g.119187080G>T
  • NG_007953.2:g.13291G>T
  • NM_014365.3:c.423G>TMANE SELECT
  • NP_055180.1:p.Lys141Asn
  • LRG_249t1:c.423G>T
  • LRG_249:g.13291G>T
  • LRG_249p1:p.Lys141Asn
  • NC_000012.11:g.119624885G>T
  • NM_014365.2:c.423G>T
  • Q9UJY1:p.Lys141Asn
Protein change:
LYS141ASN
Links:
UniProtKB: Q9UJY1#VAR_018505; OMIM: 608014.0003; dbSNP: rs104894345
NCBI 1000 Genomes Browser:
rs104894345
Molecular consequence:
  • NM_014365.3:c.423G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002771009Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Apr 6, 2022) 		unknownclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP.

Hum Genet. 2005 Feb;116(3):222-4. Epub 2004 Nov 23.

PubMed [citation]
PMID:
15565283

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

Tang BS, Luo W, Xia K, Xiao JF, Jiang H, Shen L, Tang JG, Zhao GH, Cai F, Pan Q, Dai HP, Yang QD, Xia JH, Evgrafov OV.

Hum Genet. 2004 May;114(6):527-33. Epub 2004 Mar 12.

PubMed [citation]
PMID:
15021985
See all PubMed Citations (12)

Details of each submission

From Athena Diagnostics, SCV002771009.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant segregates with Charcot-Marie-Tooth disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. Knock-in mice displayed a phenotype similar to Charcot-Marie-Tooth disease (PMID: 25206829, 28780615). Additionally, motor neurons expressing this variant exhibited neurite degeneration (PMID: 20538880). Further studies also showed that this variant leads to decreased binding to BAG3 (PMID: 20858900), but increased binding to HSPB1 and the formation of intracellular aggregates (PMID: 15122253, 20157854).

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

Last Updated: Oct 13, 2024