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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928874	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000929663	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	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

SCV000928874

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

literature only

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

SCV000929663

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

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	yes	not provided	not provided	not provided	not provided	not provided	literature 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

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Inherited Neuropathy Consortium, SCV000929663.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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