U.S. flag

An official website of the United States government

NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 3, 2018
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:
RCV000490008.1

Allele description [Variation Report for NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs)]

NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs)
HGVS:
  • NC_000001.11:g.161309903_161309933dup
  • NG_008055.1:g.5045_5075dup
  • NG_012767.1:g.528_558dup
  • NM_000530.8:c.-23_8dupMANE SELECT
  • NM_001315491.2:c.-23_8dup
  • NP_000521.2:p.Ala5fs
  • NP_001302420.1:p.Ala5fs
  • LRG_256t1:c.-23_8dup
  • LRG_256:g.5045_5075dup
  • LRG_317:g.528_558dup
  • NC_000001.10:g.161279693_161279723dup
  • NM_000530.6:c.-23_8dupGGGCCCCTGCCCCTGCCCCAGCTATGGCTCC
Protein change:
A5fs
Links:
dbSNP: rs1553260017
NCBI 1000 Genomes Browser:
rs1553260017
Molecular consequence:
  • NM_000530.8:c.-23_8dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001315491.2:c.-23_8dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000530.8:c.-23_8dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001315491.2:c.-23_8dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000577159GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 3, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000577159.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.-23_8dup31 pathogenic variant in the MPZ gene causes a frameshift starting with codon Alanine 5, changes this amino acid to a Proline residue and creates a premature Stop codon at position 62 of the new reading frame, denoted p.Ala5ProfsX62. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.-23_8dup31 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023