NM_000304.4(PMP22):c.36C>A (p.His12Gln) AND Roussy-Lévy syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001195890.1

Allele description [Variation Report for NM_000304.4(PMP22):c.36C>A (p.His12Gln)]

NM_000304.4(PMP22):c.36C>A (p.His12Gln)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
HGVS:
  • NC_000017.11:g.15260692G>T
  • NG_007949.1:g.9636C>A
  • NM_000304.4:c.36C>AMANE SELECT
  • NM_001281455.2:c.36C>A
  • NM_001281456.2:c.36C>A
  • NM_001330143.2:c.36C>A
  • NM_153321.3:c.36C>A
  • NM_153322.3:c.36C>A
  • NP_000295.1:p.His12Gln
  • NP_001268384.1:p.His12Gln
  • NP_001268385.1:p.His12Gln
  • NP_001317072.1:p.His12Gln
  • NP_696996.1:p.His12Gln
  • NP_696997.1:p.His12Gln
  • LRG_263:g.9636C>A
  • NC_000017.10:g.15164009G>T
  • NM_000304.3:c.36C>A
  • Q01453:p.His12Gln
Protein change:
H12Q; HIS12GLN
Links:
UniProtKB: Q01453#VAR_006359; OMIM: 601097.0008; dbSNP: rs104894622
NCBI 1000 Genomes Browser:
rs104894622
Molecular consequence:
  • NM_000304.4:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Roussy-Lévy syndrome
Synonyms:
Roussy-Levy Syndrome; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008392; MedGen: C0205713; Orphanet: 3115; OMIM: 180800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001366314Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001366314.2

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

Description

This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3.

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

Last Updated: Oct 30, 2021

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