NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) AND Charcot-Marie-Tooth disease, axonal, type 2EE

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 27, 2024
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:: RCV003466861.2

Allele description [Variation Report for NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)]

NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)

Gene:

MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)

HGVS:

NC_000002.12:g.27313031C>T
NG_008075.1:g.14534G>A
NG_033055.1:g.233G>A
NM_002437.5:c.149G>AMANE SELECT
NP_002428.1:p.Arg50Gln
NC_000002.11:g.27535898C>T
NM_002437.4:c.149G>A
P39210:p.Arg50Gln

Protein change:

R50Q; ARG50GLN

Links:

UniProtKB: P39210#VAR_026217; OMIM: 137960.0001; dbSNP: rs121909721

NCBI 1000 Genomes Browser:

rs121909721

Molecular consequence:

NM_002437.5:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease, axonal, type 2EE
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE
Identifiers:: MONDO: MONDO:0032728; MedGen: C5193076; OMIM: 618400

Recent activity

Clear Turn Off Turn On

phosphatase and actin regulator 1 isoform a [Homo sapiens]
phosphatase and actin regulator 1 isoform a [Homo sapiens]
gi|54144631|ref|NP_112210.1|

Protein
Excluded clinical studies - Cirrhosis in Over 16s
Excluded clinical studies - Cirrhosis in Over 16s

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004193739	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 27, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004193739

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 27, 2024)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004193739.2

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

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine