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NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 11, 2020
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:
RCV001552197.2

Allele description [Variation Report for NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)]

NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)

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.397C>T (p.Pro133Ser)
HGVS:
  • NC_000001.11:g.161306759G>A
  • NG_008055.1:g.8214C>T
  • NM_000530.8:c.397C>TMANE SELECT
  • NM_001315491.2:c.397C>T
  • NP_000521.2:p.Pro133Ser
  • NP_001302420.1:p.Pro133Ser
  • LRG_256t1:c.397C>T
  • LRG_256:g.8214C>T
  • NC_000001.10:g.161276549G>A
  • NM_000530.6:c.397C>T
Protein change:
P133S
Links:
dbSNP: rs1553259648
NCBI 1000 Genomes Browser:
rs1553259648
Molecular consequence:
  • NM_000530.8:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001772846GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Nov 11, 2020) 		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, SCV001772846.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; A different missense change at this residue (P133A) has been reported in ClinVar (ClinVar SCV000830284.1 ); This variant is associated with the following publications: (PMID: 22433810)

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

Last Updated: Sep 29, 2024