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NM_000530.8(MPZ):c.448+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 6, 2022
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:
RCV003231751.1

Allele description [Variation Report for NM_000530.8(MPZ):c.448+1G>A]

NM_000530.8(MPZ):c.448+1G>A

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.448+1G>A
HGVS:
  • NC_000001.11:g.161306707C>T
  • NG_008055.1:g.8266G>A
  • NM_000530.6:c.448+1G>A
  • NM_000530.8:c.448+1G>AMANE SELECT
  • NM_001315491.2:c.448+1G>A
  • LRG_256t1:c.448+1G>A
  • LRG_256:g.8266G>A
  • NC_000001.10:g.161276497C>T
Molecular consequence:
  • NM_000530.8:c.448+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001315491.2:c.448+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929789GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 6, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003929789.1

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

Description

Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database (DiVincenzo et al., 2014); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33179255, 25614874)

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

Last Updated: Sep 29, 2024