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NM_000431.4(MVK):c.62C>T (p.Ala21Val) AND Hyperimmunoglobulin D with periodic fever

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002243551.2

Allele description [Variation Report for NM_000431.4(MVK):c.62C>T (p.Ala21Val)]

NM_000431.4(MVK):c.62C>T (p.Ala21Val)

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.62C>T (p.Ala21Val)
HGVS:
  • NC_000012.12:g.109574884C>T
  • NG_007096.1:g.3614G>A
  • NG_007702.1:g.6190C>T
  • NM_000431.4:c.62C>TMANE SELECT
  • NM_001114185.3:c.62C>T
  • NM_001301182.2:c.62C>T
  • NP_000422.1:p.Ala21Val
  • NP_001107657.1:p.Ala21Val
  • NP_001288111.1:p.Ala21Val
  • LRG_156:g.6190C>T
  • NC_000012.11:g.110012689C>T
Protein change:
A21V
Links:
dbSNP: rs2136216750
NCBI 1000 Genomes Browser:
rs2136216750
Molecular consequence:
  • NM_000431.4:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.62C>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; 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
SCV002512234Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512234.1

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

Description

ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderate, PM3 supporting, PP3 supporting

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

Last Updated: Dec 24, 2023