NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) AND not provided

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Dec 10, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000517719.7

Allele description [Variation Report for NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)]

NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)

HGVS:

NC_000001.11:g.161305917TCT[1]
NG_008055.1:g.9053AAG[1]
NM_000530.8:c.703AAG[1]MANE SELECT
NM_001315491.2:c.703AAG[1]
NP_000521.2:p.Lys236del
NP_001302420.1:p.Lys236del
LRG_256t1:c.706_708del
LRG_256:g.9053AAG[1]
NC_000001.10:g.161275705_161275707del
NC_000001.10:g.161275707TCT[1]
NC_000001.11:g.161305915_161305917delCTT
NM_000530.6:c.706_708delAAG
NM_000530.8:c.706_708delMANE SELECT

Protein change:

K236del

Links:

dbSNP: rs755446743

NCBI 1000 Genomes Browser:

rs755446743

Molecular consequence:

NM_000530.8:c.703AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001315491.2:c.703AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614115	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Apr 13, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15716547, 12207932, 26467025
SCV000617778	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 10, 2021)	germline	clinical testing	Citation Link,
SCV001480143	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 1, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614115

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Apr 13, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000617778

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 10, 2021)

germline

clinical testing

Citation Link,

SCV001480143

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 1, 2021)

germline

clinical testing

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	1	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.

Sowden JE, Logigian EL, Malik K, Herrmann DN.

J Neurol Neurosurg Psychiatry. 2005 Mar;76(3):442-4.

PubMed [citation]

PMID:: 15716547
PMCID:: PMC1739547

Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD.

Neuromuscul Disord. 2002 Oct;12(7-8):643-50.

PubMed [citation]

PMID:: 12207932

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000614115.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

From GeneDx, SCV000617778.6

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

Description

Published functional studies demonstrate a damaging effect on MPZ protein properties in vitro (Raasakka et al., 2019).; In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12207932, 15716547, 26310628, 20800346, 28364294, 21336783, 29687021, 31173589, 33179255, 32376792, 20461396, 33359733)

#	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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001480143.1

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

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

Last Updated: Sep 29, 2024

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