NM_000530.8(MPZ):c.724del (p.Glu242fs) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 2, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002371103.3

Allele description [Variation Report for NM_000530.8(MPZ):c.724del (p.Glu242fs)]

NM_000530.8(MPZ):c.724del (p.Glu242fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.724del (p.Glu242fs)

HGVS:

NC_000001.11:g.161305903del
NG_008055.1:g.9074del
NM_000530.8:c.724delMANE SELECT
NM_001315491.2:c.724del
NP_000521.2:p.Glu242Serfs
NP_000521.2:p.Glu242fs
NP_001302420.1:p.Glu242fs
LRG_256t1:c.720del
LRG_256:g.9074del
LRG_256p1:p.Glu242Serfs
NC_000001.10:g.161275693del
NM_000530.6:c.720delG
NM_000530.6:c.724delG

Protein change:

E242fs

Molecular consequence:

NM_000530.8:c.724del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001315491.2:c.724del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002670254	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 2, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002670254

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 2, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002670254.3

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

Description

Not expected to trigger nonsense-mediated mRNA decay; Loss of function has not been established as a mechanism of disease for MPZ-related neuropathic disorders (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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Relating variation to medicine