NM_000431.4(MVK):c.129_130del (p.His44fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: May 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001216056.2

Allele description [Variation Report for NM_000431.4(MVK):c.129_130del (p.His44fs)]

NM_000431.4(MVK):c.129_130del (p.His44fs)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.129_130del (p.His44fs)
HGVS:
  • NC_000012.12:g.109576048_109576049del
  • NG_007096.1:g.2451_2452del
  • NG_007702.1:g.7354_7355del
  • NM_000431.4:c.129_130delMANE SELECT
  • NM_001114185.3:c.129_130del
  • NM_001301182.2:c.129_130del
  • NP_000422.1:p.His44fs
  • NP_001107657.1:p.His44fs
  • NP_001288111.1:p.His44fs
  • LRG_156:g.7354_7355del
  • NC_000012.11:g.110013851_110013852del
  • NC_000012.11:g.110013853_110013854del
  • NM_000431.1:c.129_130delCC
  • NM_000431.3:c.129_130del
Protein change:
H44fs
Links:
dbSNP: rs104895368
NCBI 1000 Genomes Browser:
rs104895368
Molecular consequence:
  • NM_000431.4:c.129_130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114185.3:c.129_130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301182.2:c.129_130del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mevalonic aciduria (MEVA)
Synonyms:
Mevalonate kinase deficiency
Identifiers:
MedGen: C1959626; Orphanet: 29; OMIM: 610377
Name:
Porokeratosis 3, disseminated superficial actinic type (DSAP1)
Synonyms:
Porokeratosis, disseminated superficial actinic 1; POROKERATOSIS 3, MULTIPLE TYPES; POROKERATOSIS 3, MIBELLI TYPE
Identifiers:
MONDO: MONDO:0008293; MedGen: C1867981; OMIM: 175900
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
SCV001387828Invitaecriteria provided, single submitter
Pathogenic
(May 13, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH, Schneiders MS, Koster J, Waterham HR.

Hum Mutat. 2006 Aug;27(8):796-802.

PubMed [citation]
PMID:
16835861

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
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001387828.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.His44Glnfs*35) in the MVK gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with mevalonate kinase deficiency (PMID: 16835861). ClinVar contains an entry for this variant (Variation ID: 97574). Loss-of-function variants in MVK are known to be pathogenic (PMID: 16835861, 17105862, 23834120). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 7, 2021

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