NM_000431.4(MVK):c.769-7T>G AND Hyperimmunoglobulin D with periodic fever

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000083872.2

Allele description [Variation Report for NM_000431.4(MVK):c.769-7T>G]

NM_000431.4(MVK):c.769-7T>G

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.769-7T>G
HGVS:
  • NC_000012.12:g.109591234T>G
  • NG_007702.1:g.22540T>G
  • NM_000431.4:c.769-7T>GMANE SELECT
  • NM_001114185.3:c.769-7T>G
  • NM_001301182.2:c.613-7T>G
  • LRG_156t1:c.769-7T>G
  • LRG_156:g.22540T>G
  • NC_000012.11:g.110029039T>G
  • NM_000431.1:c.769-7T>G
  • NM_000431.2:c.769-7T>G
  • NM_000431.3:c.769-7T>G
Links:
dbSNP: rs104895331
NCBI 1000 Genomes Browser:
rs104895331
Molecular consequence:
  • NM_000431.4:c.769-7T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114185.3:c.769-7T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301182.2:c.613-7T>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000115977Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

SCV001271974Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Description

also involved in OMIM 25117

SCV000115977

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115977.1

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

From Illumina Clinical Services Laboratory,Illumina, SCV001271974.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Oct 6, 2021

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