U.S. flag

An official website of the United States government

NM_000304.4(PMP22):c.124T>C (p.Cys42Arg) AND Charcot-Marie-Tooth disease, type IA

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2023
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:
RCV003152871.1

Allele description [Variation Report for NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)]

NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)

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.124T>C (p.Cys42Arg)
HGVS:
  • NC_000017.11:g.15259148A>G
  • NG_007949.1:g.11180T>C
  • NM_000304.4:c.124T>CMANE SELECT
  • NM_001281455.2:c.124T>C
  • NM_001281456.2:c.124T>C
  • NM_001330143.2:c.124T>C
  • NM_153321.3:c.124T>C
  • NM_153322.3:c.124T>C
  • NP_000295.1:p.Cys42Arg
  • NP_000295.1:p.Cys42Arg
  • NP_001268384.1:p.Cys42Arg
  • NP_001268385.1:p.Cys42Arg
  • NP_001317072.1:p.Cys42Arg
  • NP_696996.1:p.Cys42Arg
  • NP_696997.1:p.Cys42Arg
  • LRG_263t1:c.124T>C
  • LRG_263:g.11180T>C
  • LRG_263p1:p.Cys42Arg
  • NC_000017.10:g.15162465A>G
  • NM_000304.2:c.124T>C
  • NR_104017.2:n.219T>C
Protein change:
C42R
Molecular consequence:
  • NM_000304.4:c.124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.219T>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0038413503billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 23, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P, Šafka Brožková D, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dřímal P, Seeman P.

Orphanet J Rare Dis. 2016 Aug 22;11(1):118. doi: 10.1186/s13023-016-0500-5.

PubMed [citation]
PMID:
27549087
PMCID:
PMC4994270

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 3billion, SCV003841350.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PMP22 related disorder (PMID: 27549087). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Feb 20, 2024