NM_181882.3(PRX):c.1012del (p.Ala338fs) AND Dejerine-Sottas disease

Germline classification:: Pathogenic (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:: RCV000501756.2

Allele description [Variation Report for NM_181882.3(PRX):c.1012del (p.Ala338fs)]

NM_181882.3(PRX):c.1012del (p.Ala338fs)

Gene:

PRX:periaxin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_181882.3(PRX):c.1012del (p.Ala338fs)

HGVS:

NC_000019.10:g.40397341del
NG_007979.1:g.21025del
NM_020956.2:c.*1217del
NM_181882.3:c.1012delMANE SELECT
NP_870998.2:p.Ala338fs
LRG_265t1:c.*1217del
LRG_265:g.21025del
NC_000019.9:g.40903248del
NM_181882.2:c.1012delG

Protein change:

A338fs

Links:

dbSNP: rs1555801290

NCBI 1000 Genomes Browser:

rs1555801290

Molecular consequence:

NM_020956.2:c.*1217del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_181882.3:c.1012del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000590823	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000590823

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV000590823.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

#	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		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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