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NM_000304.4(PMP22):c.75_78+2del AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (2 submissions)
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:
RCV000790262.2

Allele description [Variation Report for NM_000304.4(PMP22):c.75_78+2del]

NM_000304.4(PMP22):c.75_78+2del

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.75_78+2del
HGVS:
  • NC_000017.11:g.15260651_15260656del
  • NG_007949.1:g.9675_9680del
  • NM_000304.4:c.75_78+2delMANE SELECT
  • NM_001281455.2:c.75_78+2del
  • NM_001281456.2:c.75_78+2del
  • NM_001330143.2:c.75_78+2del
  • NM_153321.3:c.75_78+2del
  • NM_153322.3:c.75_78+2del
  • LRG_263:g.9675_9680del
  • NC_000017.10:g.15163968_15163973del
  • NM_000304.2:c.73_78delGTCAGC
  • NM_000304.3:c.75_78+2delCAGCGT
Links:
dbSNP: rs1597635535
NCBI 1000 Genomes Browser:
rs1597635535
Molecular consequence:
  • NM_000304.4:c.75_78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281455.2:c.75_78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281456.2:c.75_78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330143.2:c.75_78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153321.3:c.75_78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153322.3:c.75_78+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928874Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

SCV000929663Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV.

Hum Mutat. 2000;15(4):340-7. Erratum in: Hum Mutat 2000;16(2):175.

PubMed [citation]
PMID:
10737979

Details of each submission

From Inherited Neuropathy Consortium, SCV000928874.1

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

From Inherited Neuropathy Consortium, SCV000929663.1

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

Last Updated: Apr 23, 2022