NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 23, 2015
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:: RCV000622699.4

Allele description [Variation Report for NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)]

NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)

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.407G>T (p.Arg136Leu)

HGVS:

NC_000007.14:g.76303844G>T
NG_008995.1:g.6287G>T
NM_001540.5:c.407G>TMANE SELECT
NP_001531.1:p.Arg136Leu
LRG_248t1:c.407G>T
LRG_248:g.6287G>T
NC_000007.13:g.75933161G>T
NM_001540.3:c.407G>T

Protein change:

R136L

Links:

dbSNP: rs863225022

NCBI 1000 Genomes Browser:

rs863225022

Molecular consequence:

NM_001540.5:c.407G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741123	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Nov 23, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22176143, 25547330, 24607769, 12372593 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741123

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Nov 23, 2015)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Iranian/Jewish	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

Capponi S, Geroldi A, Fossa P, Grandis M, Ciotti P, Gulli R, Schenone A, Mandich P, Bellone E.

J Peripher Nerv Syst. 2011 Dec;16(4):287-94. doi: 10.1111/j.1529-8027.2011.00361.x.

PubMed [citation]

PMID:: 22176143

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.

Stancanelli C, Fabrizi GM, Ferrarini M, Cavallaro T, Taioli F, Di Leo R, Russo M, Gentile L, Toscano A, Vita G, Mazzeo A.

Neurol Sci. 2015 Jun;36(6):1003-6. doi: 10.1007/s10072-014-2050-8. Epub 2014 Dec 30.

PubMed [citation]

PMID:: 25547330

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000741123.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Iranian/Jewish	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Aug 4, 2024

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