NM_000530.8(MPZ):c.188_190del (p.Ser63del) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 28, 2021
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:: RCV000235309.3

Allele description [Variation Report for NM_000530.8(MPZ):c.188_190del (p.Ser63del)]

NM_000530.8(MPZ):c.188_190del (p.Ser63del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.188_190del (p.Ser63del)

Other names:

MPZ, 3-BP DEL, SER34DEL; S34del

HGVS:

NC_000001.11:g.161307304_161307306del
NG_008055.1:g.7669_7671del
NM_000530.8:c.188_190delMANE SELECT
NM_001315491.2:c.188_190del
NP_000521.2:p.Ser63del
NP_001302420.1:p.Ser63del
LRG_256t1:c.188_190del
LRG_256:g.7669_7671del
NC_000001.10:g.161277092_161277094del
NC_000001.10:g.161277094_161277096del
NM_000530.6:c.188_190del
NM_000530.6:c.188_190delCCT

Protein change:

S63del; SER34DEL

Links:

OMIM: 159440.0003; dbSNP: rs879254109

NCBI 1000 Genomes Browser:

rs879254109

Molecular consequence:

NM_000530.8:c.188_190del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001315491.2:c.188_190del - 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
SCV000293536	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 28, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293536

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 28, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293536.12

#	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 that in mice, S63del results in unfolded protein response including expression of CHOP and demyelinating neuropathy that mimics the corresponding human disease (Wrabetz et al., 2006, Pennuto et al., 2008); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 16495463, 23344956, 22734905, 29687021, 20461396, 26310628, 33879538, 34573256, 32973043, 7693130, 18255032)

#	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: Feb 28, 2024

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