NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) 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:: RCV000790118.1

Allele description [Variation Report for NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)]

NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)

Gene:

MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)

HGVS:

NC_000001.11:g.161306782_161306787del
NG_008055.1:g.8189_8194del
NM_000530.8:c.372_377delMANE SELECT
NM_001315491.2:c.372_377del
NP_000521.2:p.Phe125_Thr126del
NP_001302420.1:p.Phe125_Thr126del
LRG_256t1:c.372_377del
LRG_256:g.8189_8194del
NC_000001.10:g.161276572_161276577del
NM_000530.6:c.372_377delGTTCAC

Links:

dbSNP: rs1571818880

NCBI 1000 Genomes Browser:

rs1571818880

Molecular consequence:

NM_000530.8:c.372_377del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001315491.2:c.372_377del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000929508	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

SCV000929508

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

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML.

Hum Mutat. 1998;Suppl 1:S217-9. No abstract available.

PubMed [citation]

PMID:: 9452091

Details of each submission

From Inherited Neuropathy Consortium, SCV000929508.1

#	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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