NM_000431.4(MVK):c.238G>A (p.Val80Ile) AND Hyperimmunoglobulin D with periodic fever

Germline classification:: Benign (2 submissions)
Last evaluated:: Apr 28, 2017
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:: RCV000083830.14

Allele description [Variation Report for NM_000431.4(MVK):c.238G>A (p.Val80Ile)]

NM_000431.4(MVK):c.238G>A (p.Val80Ile)

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.238G>A (p.Val80Ile)

HGVS:

NC_000012.12:g.109579813G>A
NG_007702.1:g.11119G>A
NM_000431.4:c.238G>AMANE SELECT
NM_001114185.3:c.238G>A
NM_001301182.2:c.238G>A
NP_000422.1:p.Val80Ile
NP_001107657.1:p.Val80Ile
NP_001288111.1:p.Val80Ile
LRG_156t1:c.238G>A
LRG_156:g.11119G>A
NC_000012.11:g.110017618G>A
NM_000431.1:c.238G>A
NM_000431.2:c.238G>A
NM_000431.3:c.238G>A

Protein change:

V80I

Links:

dbSNP: rs76914224

NCBI 1000 Genomes Browser:

rs76914224

Molecular consequence:

NM_000431.4:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114185.3:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001301182.2:c.238G>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115932	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	unknown	not provided
SCV001271876	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115932

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

unknown

not provided

SCV001271876

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 28, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.

Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R.

Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Review.

PubMed [citation]

PMID:: 26299986

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115932.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV001271876.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine