NM_000431.4(MVK):c.500C>T (p.Pro167Leu) AND Hyperimmunoglobulin D with periodic fever

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000032937.25

Allele description [Variation Report for NM_000431.4(MVK):c.500C>T (p.Pro167Leu)]

NM_000431.4(MVK):c.500C>T (p.Pro167Leu)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
HGVS:
  • NC_000012.12:g.109581523C>T
  • NG_007702.1:g.12829C>T
  • NM_000431.4:c.500C>TMANE SELECT
  • NM_001114185.3:c.500C>T
  • NM_001301182.2:c.371+1577C>T
  • NP_000422.1:p.Pro167Leu
  • NP_001107657.1:p.Pro167Leu
  • LRG_156t1:c.500C>T
  • LRG_156:g.12829C>T
  • NC_000012.11:g.110019328C>T
  • NM_000431.1:c.500C>T
  • NM_000431.2:c.500C>T
  • Q03426:p.Pro167Leu
Protein change:
P167L; PRO167LEU
Links:
UniProtKB: Q03426#VAR_004023; OMIM: 251170.0011; dbSNP: rs104895300
NCBI 1000 Genomes Browser:
rs104895300
Molecular consequence:
  • NM_001301182.2:c.371+1577C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000431.4:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperimmunoglobulin D with periodic fever (HIDS)
Synonyms:
Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever Dutch type; Hyperimmunoglobulinemia D
Identifiers:
MONDO: MONDO:0009849; MedGen: C0398691; Orphanet: 343; OMIM: 260920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056709OMIMno assertion criteria providedPathogenic
(Apr 1, 2001)
germlineliterature only

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

SCV000115948Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

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

Description

also involved in OMIM 25117

SCV000115948

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M; International Hyper-IgD Study Group..

Eur J Hum Genet. 2001 Apr;9(4):260-6.

PubMed [citation]
PMID:
11313769

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M.

Nat Genet. 1999 Jun;22(2):178-81.

PubMed [citation]
PMID:
10369262

Details of each submission

From OMIM, SCV000056709.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with hyper-IgD syndrome (HIDS; 260920), Cuisset et al. (2001) identified compound heterozygosity for 2 mutations in the MVK gene: a 591C-T transition in exon 4, resulting in a pro167-to-leu (P167L) substitution, and G202R (251170.0010).

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

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

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