NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) AND Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (1 submission)
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:: RCV000789964.1

Allele description [Variation Report for NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)]

NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)

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.250G>A (p.Gly84Arg)

HGVS:

NC_000007.14:g.76302962G>A
NG_008995.1:g.5405G>A
NM_001540.5:c.250G>AMANE SELECT
NP_001531.1:p.Gly84Arg
LRG_248t1:c.250G>A
LRG_248:g.5405G>A
NC_000007.13:g.75932279G>A
NM_001540.3:c.250G>A

Protein change:

G84R

Links:

dbSNP: rs770272088

NCBI 1000 Genomes Browser:

rs770272088

Molecular consequence:

NM_001540.5:c.250G>A - 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

Recent activity

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PREDICTED: Homo sapiens collagen type IV alpha 5 chain (COL4A5), transcript vari...
PREDICTED: Homo sapiens collagen type IV alpha 5 chain (COL4A5), transcript variant X1, mRNA
gi|2217390975|ref|XM_011530849.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929350	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000929350

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Manganelli F, Tozza S, Pisciotta C, Bellone E, Iodice R, Nolano M, Geroldi A, Capponi S, Mandich P, Santoro L.

J Peripher Nerv Syst. 2014 Dec;19(4):292-8. doi: 10.1111/jns.12092.

PubMed [citation]

PMID:: 25429913

Details of each submission

From Inherited Neuropathy Consortium, SCV000929350.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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