NM_002156.5(HSPD1):c.139T>G (p.Leu47Val) AND Hypomyelinating leukodystrophy 4

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 2, 2020
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:: RCV001254923.1

Allele description

NM_002156.5(HSPD1):c.139T>G (p.Leu47Val)

Gene:

HSPD1:heat shock protein family D (Hsp60) member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_002156.5(HSPD1):c.139T>G (p.Leu47Val)

Other names:

HSP60

HGVS:

NC_000002.12:g.197498710A>C
NG_008914.1:g.3714A>C
NG_008915.1:g.6565T>G
NM_002156.5:c.139T>GMANE SELECT
NM_199440.2:c.139T>G
NP_002147.2:p.Leu47Val
NP_955472.1:p.Leu47Val
NC_000002.11:g.198363434A>C

Protein change:

L47V

Links:

dbSNP: rs2086193735

NCBI 1000 Genomes Browser:

rs2086193735

Molecular consequence:

NM_002156.5:c.139T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_199440.2:c.139T>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Decreased function

Observations:

Condition(s)

Name:: Hypomyelinating leukodystrophy 4
Synonyms:: MITCHAP60 DISEASE; MITOCHONDRIAL HSP60 CHAPERONOPATHY
Identifiers:: MONDO: MONDO:0012824; MedGen: C2677109; Orphanet: 280270; Orphanet: 280288; OMIM: 612233

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001164600	Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital	no assertion criteria provided	Likely pathogenic (Mar 2, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001164600

Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital

no assertion criteria provided

Likely pathogenic
(Mar 2, 2020)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, SCV001164600.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

Description

Absent in parents

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

Last Updated: Apr 23, 2022

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