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NM_000530.8(MPZ):c.646-3C>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2016
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:
RCV000413024.1

Allele description [Variation Report for NM_000530.8(MPZ):c.646-3C>A]

NM_000530.8(MPZ):c.646-3C>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.646-3C>A
HGVS:
  • NC_000001.11:g.161305980G>T
  • NG_008055.1:g.8993C>A
  • NM_000530.8:c.646-3C>AMANE SELECT
  • NM_001315491.2:c.646-3C>A
  • LRG_256t1:c.646-3C>A
  • LRG_256:g.8993C>A
  • NC_000001.10:g.161275770G>T
  • NM_000530.6:c.646-3C>A
Links:
dbSNP: rs750756212
NCBI 1000 Genomes Browser:
rs750756212
Molecular consequence:
  • NM_000530.8:c.646-3C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001315491.2:c.646-3C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492230GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 28, 2016) 		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, SCV000492230.1

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

Description

A variant of uncertain significance has been identified in the MPZ gene. The c.646-3 C>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.646-3 C>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. Several in-silico splice prediction models predict that c.646-3 C>A may damage or destroy the natural splice acceptor site for intron 5 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: May 7, 2024