NM_000304.4(PMP22):c.53T>G (p.Leu18Arg) 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:: RCV000789514.1

Allele description [Variation Report for NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)]

NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)

Gene:

PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)

HGVS:

NC_000017.11:g.15260675A>C
NG_007949.1:g.9653T>G
NM_000304.4:c.53T>GMANE SELECT
NM_001281455.2:c.53T>G
NM_001281456.2:c.53T>G
NM_001330143.2:c.53T>G
NM_153321.3:c.53T>G
NM_153322.3:c.53T>G
NP_000295.1:p.Leu18Arg
NP_001268384.1:p.Leu18Arg
NP_001268385.1:p.Leu18Arg
NP_001317072.1:p.Leu18Arg
NP_696996.1:p.Leu18Arg
NP_696997.1:p.Leu18Arg
LRG_263:g.9653T>G
NC_000017.10:g.15163992A>C
NM_000304.3:c.53T>G

Protein change:

L18R

Links:

dbSNP: rs1597635677

NCBI 1000 Genomes Browser:

rs1597635677

Molecular consequence:

NM_000304.4:c.53T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281455.2:c.53T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281456.2:c.53T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330143.2:c.53T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153321.3:c.53T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153322.3:c.53T>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928870	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

SCV000928870

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

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse.

Madrid RE, Lofgren A, Baets J, Timmerman V.

Neuromuscul Disord. 2013 Apr;23(4):345-8. doi: 10.1016/j.nmd.2012.12.005. Epub 2013 Jan 10.

PubMed [citation]

PMID:: 23313019

Details of each submission

From Inherited Neuropathy Consortium, SCV000928870.1

#	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: Apr 23, 2022

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