NM_181882.3(PRX):c.247del (p.Leu83fs) AND Dejerine-Sottas disease

Germline classification:: Uncertain significance (1 submission)
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:: RCV000789551.1

Allele description [Variation Report for NM_181882.3(PRX):c.247del (p.Leu83fs)]

NM_181882.3(PRX):c.247del (p.Leu83fs)

Gene:

PRX:periaxin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_181882.3(PRX):c.247del (p.Leu83fs)

Other names:

Arg82fsTer96

HGVS:

NC_000019.10:g.40398755del
NG_007979.1:g.19611del
NM_020956.2:c.247del
NM_181882.3:c.247delMANE SELECT
NP_066007.1:p.Leu83fs
NP_870998.2:p.Leu83fs
LRG_265t1:c.247del
LRG_265:g.19611del
LRG_265p1:p.Leu83fs
NC_000019.9:g.40904662del
NM_181882.2:c.247delC
NP_870998.2:p.Leu83CysfsTer14

Nucleotide change:

1-BP DEL, 247C

Protein change:

L83fs

Links:

OMIM: 605725.0007; dbSNP: rs281865061

NCBI 1000 Genomes Browser:

rs281865061

Molecular consequence:

NM_020956.2:c.247del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181882.3:c.247del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Dejerine-Sottas disease
Synonyms:: HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; Hypertrophic neuropathy of Dejerine-Sottas; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928907	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

SCV000928907

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

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR.

Ann Neurol. 2002 Jun;51(6):709-15.

PubMed [citation]

PMID:: 12112076

Details of each submission

From Inherited Neuropathy Consortium, SCV000928907.1

#	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: Sep 16, 2024

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