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NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Aug 20, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000236489.26

Allele description [Variation Report for NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)]

NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)

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.182A>G (p.Asp61Gly)
HGVS:
  • NC_000001.11:g.161307310T>C
  • NG_008055.1:g.7663A>G
  • NM_000530.8:c.182A>GMANE SELECT
  • NM_001315491.2:c.182A>G
  • NP_000521.2:p.Asp61Gly
  • NP_001302420.1:p.Asp61Gly
  • LRG_256t1:c.182A>G
  • LRG_256:g.7663A>G
  • NC_000001.10:g.161277100T>C
  • NM_000530.6:c.182A>G
  • P25189:p.Asp61Gly
Protein change:
D61G
Links:
UniProtKB: P25189#VAR_031885; dbSNP: rs786204119
NCBI 1000 Genomes Browser:
rs786204119
Molecular consequence:
  • NM_000530.8:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000293160GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Aug 20, 2024) 		germlineclinical testing

Citation Link,

SCV001249788CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(May 1, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000293160.10

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

Description

Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23290023, 26406915, 37581289, 37699394, 10764043, 26310628, 20461396)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001249788.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024