NM_000530.8(MPZ):c.396_397del (p.Pro133fs) AND Charcot-Marie-Tooth 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:: RCV000790112.1

Allele description [Variation Report for NM_000530.8(MPZ):c.396_397del (p.Pro133fs)]

NM_000530.8(MPZ):c.396_397del (p.Pro133fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.396_397del (p.Pro133fs)

HGVS:

NC_000001.11:g.161306760_161306761del
NG_008055.1:g.8213_8214del
NM_000530.8:c.396_397delMANE SELECT
NM_001315491.2:c.396_397del
NP_000521.2:p.Pro133fs
NP_001302420.1:p.Pro133fs
LRG_256t1:c.396_397del
LRG_256:g.8213_8214del
NC_000001.10:g.161276550_161276551del
NM_000530.6:c.396_397delTC

Protein change:

P133fs

Links:

dbSNP: rs1571818797

NCBI 1000 Genomes Browser:

rs1571818797

Molecular consequence:

NM_000530.8:c.396_397del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001315491.2:c.396_397del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000929502	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

SCV000929502

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

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

Rautenstrauss B, Huehne K, Thiel C, Kraus C.

Hum Genet. 2007 Dec;122(5):545-6. No abstract available.

PubMed [citation]

PMID:: 18380018

Details of each submission

From Inherited Neuropathy Consortium, SCV000929502.1

#	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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