NM_000431.4(MVK):c.119G>A (p.Arg40Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000757502.2

Allele description [Variation Report for NM_000431.4(MVK):c.119G>A (p.Arg40Gln)]

NM_000431.4(MVK):c.119G>A (p.Arg40Gln)

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.119G>A (p.Arg40Gln)
HGVS:
  • NC_000012.12:g.109576038G>A
  • NG_007096.1:g.2460C>T
  • NG_007702.1:g.7344G>A
  • NM_000431.4:c.119G>AMANE SELECT
  • NM_001114185.3:c.119G>A
  • NM_001301182.2:c.119G>A
  • NP_000422.1:p.Arg40Gln
  • NP_001107657.1:p.Arg40Gln
  • NP_001288111.1:p.Arg40Gln
  • LRG_156:g.7344G>A
  • NC_000012.11:g.110013843G>A
  • NM_000431.3:c.119G>A
Protein change:
R40Q
Links:
dbSNP: rs373095009
NCBI 1000 Genomes Browser:
rs373095009
Molecular consequence:
  • NM_000431.4:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885754ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Apr 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885754.1

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

Description

The MVK c.119G>A; p.Arg40Gln variant (rs373095009), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population in 2 out of 246,270 alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 40 is moderately conserved but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Considering available information, there is insufficient evidence to classify this variant with certainty. Pathogenic MVK variants are causative for autosomal recessive hyper-IgD syndrome (MIM: 260920) or mevalonic aciduria (MIM: 610377).

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

Last Updated: Oct 8, 2021

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