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NM_000431.4(MVK):c.78+2del AND Hyperimmunoglobulin D with periodic fever

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000083875.1

Allele description [Variation Report for NM_000431.4(MVK):c.78+2del]

NM_000431.4(MVK):c.78+2del

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.78+2del
HGVS:
  • NC_000012.12:g.109574902del
  • NG_007096.1:g.3596del
  • NG_007702.1:g.6208del
  • NM_000431.4:c.78+2delMANE SELECT
  • NM_001114185.3:c.78+2del
  • NM_001301182.2:c.78+2del
  • NM_001414511.1:c.78+2del
  • NM_001414512.1:c.78+2del
  • NM_001414513.1:c.78+2del
  • NM_001414514.1:c.78+2del
  • NM_001414515.1:c.-505+1029del
  • LRG_156:g.6208del
  • NC_000012.11:g.110012707del
  • NM_000431.1:c.78+2delT
Links:
dbSNP: rs104895378
NCBI 1000 Genomes Browser:
rs104895378
Molecular consequence:
  • NM_001414515.1:c.-505+1029del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000431.4:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114185.3:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001301182.2:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001414511.1:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001414512.1:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001414513.1:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001414514.1:c.78+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115980Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providednot providednot provided

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

Description

also involved in OMIM 25117

SCV000115980

Help

Summary from all submissions

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

Citations

PubMed

Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.

Lawrence A, Hol F, Aggarwal A, Drenth JP.

Ann Rheum Dis. 2006 Dec;65(12):1674-6. No abstract available. Erratum in: Ann Rheum Dis. 2015 Jan;74(1):319.

PubMed [citation]
PMID:
17105862
PMCID:
PMC1798448

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115980.1

#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: Jun 10, 2023