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NM_000304.4(PMP22):c.-34-216C>T AND Charcot-Marie-Tooth disease, type I

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 30, 2019
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:
RCV000781980.1

Allele description [Variation Report for NM_000304.4(PMP22):c.-34-216C>T]

NM_000304.4(PMP22):c.-34-216C>T

Genes:
LOC130060307:ATAC-STARR-seq lymphoblastoid silent region 8211 [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.-34-216C>T
HGVS:
  • NC_000017.11:g.15260977G>A
  • NG_007949.1:g.9351C>T
  • NM_000304.4:c.-34-216C>TMANE SELECT
  • NM_001281455.2:c.-34-216C>T
  • NM_001281456.2:c.-30-220C>T
  • NM_001330143.2:c.-34-216C>T
  • NM_153321.3:c.-34-216C>T
  • LRG_263:g.9351C>T
  • NC_000017.10:g.15164294G>A
Links:
dbSNP: rs151105938
NCBI 1000 Genomes Browser:
rs151105938
Molecular consequence:
  • NM_000304.4:c.-34-216C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281455.2:c.-34-216C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281456.2:c.-30-220C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330143.2:c.-34-216C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153321.3:c.-34-216C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type I (CMT1)
Synonyms:
Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
Identifiers:
MONDO: MONDO:0019011; MedGen: C0751036

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000920435Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jan 30, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000920435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024