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NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 2019
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:
RCV000992318.10

Allele description [Variation Report for NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)]

NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
HGVS:
  • NC_000001.11:g.161307311C>T
  • NG_008055.1:g.7662G>A
  • NM_000530.8:c.181G>AMANE SELECT
  • NM_001315491.2:c.181G>A
  • NP_000521.2:p.Asp61Asn
  • NP_001302420.1:p.Asp61Asn
  • LRG_256t1:c.181G>A
  • LRG_256:g.7662G>A
  • LRG_256p1:p.Asp61Asn
  • NC_000001.10:g.161277101C>T
  • NM_000530.6:c.181G>A
Protein change:
D61N
Links:
dbSNP: rs797044845
NCBI 1000 Genomes Browser:
rs797044845
Molecular consequence:
  • NM_000530.8:c.181G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.181G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001144529Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Mar 22, 2019) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.

Prada V, Passalacqua M, Bono M, Luzzi P, Scazzola S, Nobbio LA, Capponi S, Bellone E, Mandich P, Mancardi G, Shy M, Schenone A, Grandis M.

Ann Neurol. 2012 Mar;71(3):427-31. doi: 10.1002/ana.22695.

PubMed [citation]
PMID:
22451207
PMCID:
PMC3315062

Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

Yonekawa T, Komaki H, Saito Y, Takashima H, Sasaki M.

Pediatr Neurol. 2013 Jan;48(1):59-62. doi: 10.1016/j.pediatrneurol.2012.09.011.

PubMed [citation]
PMID:
23290023
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics, SCV001144529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Not found in the total gnomAD dataset, and the data is high quality (0/282678 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein. Damaging to protein function(s) relevant to disease mechanism. One de novo case without parental identity confirmed.

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

Last Updated: Oct 26, 2024