NM_000431.4(MVK):c.494C>T (p.Pro165Leu) AND Hyperimmunoglobulin D with periodic fever

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1999)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012711.17

Allele description [Variation Report for NM_000431.4(MVK):c.494C>T (p.Pro165Leu)]

NM_000431.4(MVK):c.494C>T (p.Pro165Leu)

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.494C>T (p.Pro165Leu)
HGVS:
  • NC_000012.12:g.109581517C>T
  • NG_007702.1:g.12823C>T
  • NM_000431.4:c.494C>TMANE SELECT
  • NM_001114185.3:c.494C>T
  • NM_001301182.2:c.371+1571C>T
  • NP_000422.1:p.Pro165Leu
  • NP_001107657.1:p.Pro165Leu
  • LRG_156t1:c.494C>T
  • LRG_156:g.12823C>T
  • LRG_156p1:p.Pro165Leu
  • NC_000012.11:g.110019322C>T
  • NM_000431.3:c.494C>T
Protein change:
P165L; PRO165LEU
Links:
OMIM: 251170.0005; dbSNP: rs121917790
NCBI 1000 Genomes Browser:
rs121917790
Molecular consequence:
  • NM_001301182.2:c.371+1571C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000431.4:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.494C>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
SCV000032946OMIMno assertion criteria providedPathogenic
(Jun 1, 1999)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

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, SCV000032946.4

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

Description

In a family with hyper-IgD syndrome (HIDS; 260920), Drenth et al. (1999) found that affected individuals were compound heterozygous for a pro165-to-leu mutation (P165L) and the I268T mutation (251170.0004).

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

Last Updated: Oct 8, 2021

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