NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) AND Charcot-Marie-Tooth disease, type IA

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 1, 2004
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:: RCV000008959.5

Allele description [Variation Report for NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)]

NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)

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.65C>T (p.Ser22Phe)

HGVS:

NC_000017.11:g.15260663G>A
NG_007949.1:g.9665C>T
NM_000304.4:c.65C>TMANE SELECT
NM_001281455.2:c.65C>T
NM_001281456.2:c.65C>T
NM_001330143.2:c.65C>T
NM_153321.3:c.65C>T
NM_153322.3:c.65C>T
NP_000295.1:p.Ser22Phe
NP_001268384.1:p.Ser22Phe
NP_001268385.1:p.Ser22Phe
NP_001317072.1:p.Ser22Phe
NP_696996.1:p.Ser22Phe
NP_696997.1:p.Ser22Phe
LRG_263t1:c.65C>T
LRG_263:g.9665C>T
NC_000017.10:g.15163980G>A
NM_000304.2:c.65C>T
Q01453:p.Ser22Phe

Protein change:

S22F; SER22PHE

Links:

UniProtKB: Q01453#VAR_029960; OMIM: 601097.0019; dbSNP: rs104894625

NCBI 1000 Genomes Browser:

rs104894625

Molecular consequence:

NM_000304.4:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281455.2:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281456.2:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330143.2:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_153321.3:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_153322.3:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease, type IA (CMT1A)
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007309; MedGen: C0270911; Orphanet: 101081; OMIM: 118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053464	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000055667	GeneReviews	no classification provided	not provided	unknown	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

SCV000053464

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2004)

germline

literature only

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

SCV000055667

GeneReviews

no classification provided

not provided

unknown

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K.

Neurogenetics. 2004 Sep;5(3):171-5. Epub 2004 Jun 17.

PubMed [citation]

PMID:: 15205993

Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Bird TD.

1998 Aug 31 [updated 2015 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301384

Details of each submission

From OMIM, SCV000053464.2

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

Description

In affected members of a family from Cyprus with hereditary neuropathy with liability to pressure palsies (HNPP; 162500) and/or Charcot-Marie-Tooth disease type 1A (CMT1A; 118220), Kleopa et al. (2004) identified a 65C-T transition in exon 1 of the PMP22 gene, resulting in a ser22-to-phe (S22F) substitution. One patient presented with typical HNPP, which later progressed to severe CMT1A, 2 patients had HNPP with features of CMT1A, and 1 patient had a chronic asymptomatic CMT1A phenotype. Kleopa et al. (2004) emphasized the broad phenotypic spectrum resulting from mutations in the PMP22 gene, as well as the phenotypic overlap of HNPP and CMT1A.

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

From GeneReviews, SCV000055667.2

#	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	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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