NM_000530.8(MPZ):c.130_137del (p.Ser44fs) 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:: RCV000790065.1

Allele description [Variation Report for NM_000530.8(MPZ):c.130_137del (p.Ser44fs)]

NM_000530.8(MPZ):c.130_137del (p.Ser44fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.130_137del (p.Ser44fs)

HGVS:

NC_000001.11:g.161307355_161307362del
NG_008055.1:g.7611_7618del
NM_000530.8:c.130_137delMANE SELECT
NM_001315491.2:c.130_137del
NP_000521.2:p.Ser44fs
NP_001302420.1:p.Ser44fs
LRG_256t1:c.130_137del
LRG_256:g.7611_7618del
NC_000001.10:g.161277145_161277152del
NM_000530.6:c.130_137del
NM_000530.6:c.130_137delTCCCGGGT
NM_000530.7:c.130_137del8
p.Ser44Aspfs*10

Protein change:

S44fs

Links:

dbSNP: rs1571820186

NCBI 1000 Genomes Browser:

rs1571820186

Molecular consequence:

NM_000530.8:c.130_137del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001315491.2:c.130_137del - 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
SCV000929455	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

SCV000929455

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

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.

Chavada G, Rao DG, Martindale J, Hadjivassiliou M.

J Clin Neuromuscul Dis. 2012 Jun;13(4):206-8. doi: 10.1097/CND.0b013e3182461a83.

PubMed [citation]

PMID:: 22622165

Details of each submission

From Inherited Neuropathy Consortium, SCV000929455.1

#	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 29, 2024

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