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NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2023
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:
RCV003482225.3

Allele description [Variation Report for NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)]

NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)

Gene:
HSPB1:heat shock protein family B (small) member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
HGVS:
  • NC_000007.14:g.76303841C>T
  • NG_008995.1:g.6284C>T
  • NM_001540.5:c.404C>TMANE SELECT
  • NP_001531.1:p.Ser135Phe
  • LRG_248t1:c.404C>T
  • LRG_248:g.6284C>T
  • LRG_248p1:p.Ser135Phe
  • NC_000007.13:g.75933158C>T
  • NM_001540.3:c.404C>T
  • P04792:p.Ser135Phe
Protein change:
S135F; SER135PHE
Links:
UniProtKB: P04792#VAR_018507; OMIM: 602195.0001; dbSNP: rs28939680
NCBI 1000 Genomes Browser:
rs28939680
Molecular consequence:
  • NM_001540.5:c.404C>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
SCV004229710Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Aug 15, 2023) 		unknownclinical testing

PubMed (15)
[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

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM.

Neurology. 2008 Nov 18;71(21):1660-8. doi: 10.1212/01.wnl.0000319696.14225.67. Epub 2008 Oct 1.

PubMed [citation]
PMID:
18832141

Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.

Zhai J, Lin H, Julien JP, Schlaepfer WW.

Hum Mol Genet. 2007 Dec 15;16(24):3103-16. Epub 2007 Sep 19.

PubMed [citation]
PMID:
17881652
See all PubMed Citations (15)

Details of each submission

From Athena Diagnostics, SCV004229710.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (15)

Description

This variant has not been reported in large, multi-ethnic general populations. This variant segregates with disease in multiple families. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 15122254, 17881652, 20178975, 21785432)

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

Last Updated: Sep 29, 2024