NC_000017.11:g.(?_15239461)_(15260737_?)del AND Charcot-Marie-Tooth disease, type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 4, 2018
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:: RCV000813337.3

Allele description [Variation Report for NC_000017.11:g.(?_15239461)_(15260737_?)del]

NC_000017.11:g.(?_15239461)_(15260737_?)del

Genes:

MIR4731:microRNA 4731 [Gene - HGNC]
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NC_000017.11:g.(?_15239461)_(15260737_?)del

HGVS:

NC_000017.11:g.(?_15239461)_(15260737_?)del
NC_000017.10:g.(?_15142778)_(15164054_?)del

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000953695	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 4, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 8894410, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000953695

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 4, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.

Pareyson D, Taroni F.

Curr Opin Neurol. 1996 Oct;9(5):348-54. Review.

PubMed [citation]

PMID:: 8894410

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000953695.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the PMP22 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Approximately 80% of individuals with hereditary neuropathy with liability to pressure palsies (HNPP) have a 1.5Mb deletion at 17p11.2 (which includes PMP22) on one chromosome (PMID: 8894410,Â¬â€ 20301566). Because deletions of PMP22 are a known mechanism of disease in HNPP, this sequence change has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2025

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