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NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) AND Charcot-Marie-Tooth disease, type IA

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 8, 1993
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:
RCV000008941.3

Allele description [Variation Report for NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)]

NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)

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.236C>G (p.Ser79Cys)
HGVS:
  • NC_000017.11:g.15239554G>C
  • NG_007949.1:g.30774C>G
  • NM_000304.4:c.236C>GMANE SELECT
  • NM_001281455.2:c.236C>G
  • NM_001281456.2:c.236C>G
  • NM_001330143.2:c.236C>G
  • NM_153321.3:c.236C>G
  • NM_153322.3:c.236C>G
  • NP_000295.1:p.Ser79Cys
  • NP_001268384.1:p.Ser79Cys
  • NP_001268385.1:p.Ser79Cys
  • NP_001317072.1:p.Ser79Cys
  • NP_696996.1:p.Ser79Cys
  • NP_696997.1:p.Ser79Cys
  • LRG_263:g.30774C>G
  • NC_000017.10:g.15142871G>C
  • NR_104017.2:n.331C>G
  • NR_104018.2:n.231C>G
  • Q01453:p.Ser79Cys
Protein change:
S79C; SER79CYS
Links:
UniProtKB: Q01453#VAR_006367; OMIM: 601097.0003; dbSNP: rs104894618
NCBI 1000 Genomes Browser:
rs104894618
Molecular consequence:
  • NM_000304.4:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.331C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.231C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029151OMIM
no assertion criteria provided
Pathogenic
(Jul 8, 1993) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR.

N Engl J Med. 1993 Jul 8;329(2):96-101.

PubMed [citation]
PMID:
8510709

Details of each submission

From OMIM, SCV000029151.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Roa et al. (1993) analyzed DNA samples from 32 unrelated Charcot-Marie Tooth disease type 1A (CMT1A; 118220) patients who did not have the 1.5-Mb tandem duplication in 17p12-p11.2. Searching for mutations within the PMP22 region, they found in 1 family a C-to-G transversion, corresponding to the substitution of cysteine for serine in the 79th codon (S79C) of PMP22. The substitution occurred in the second putative transmembrane domain of PMP22.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024