NM_000431.4(MVK):c.340_344del (p.Tyr114fs) AND Hyperimmunoglobulin D with periodic fever

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000083832.1

Allele description [Variation Report for NM_000431.4(MVK):c.340_344del (p.Tyr114fs)]

NM_000431.4(MVK):c.340_344del (p.Tyr114fs)

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_000431.4(MVK):c.340_344del (p.Tyr114fs)

HGVS:

NC_000012.12:g.109579915_109579919del
NG_007702.1:g.11221_11225del
NM_000431.4:c.340_344delMANE SELECT
NM_001114185.3:c.340_344del
NM_001301182.2:c.340_344del
NP_000422.1:p.Tyr114fs
NP_001107657.1:p.Tyr114fs
NP_001288111.1:p.Tyr114fs
LRG_156:g.11221_11225del
NC_000012.11:g.110017720_110017724del
NM_000431.1:c.340_344delTACTT

Protein change:

Y114fs

Links:

dbSNP: rs104895370

NCBI 1000 Genomes Browser:

rs104895370

Molecular consequence:

NM_000431.4:c.340_344del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114185.3:c.340_344del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001301182.2:c.340_344del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115934	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115934

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

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

Description

also involved in OMIM 25117: SCV000115934

Help

Summary from all submissions

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

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

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115934.1

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

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

Last Updated: Apr 23, 2022

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