NM_000431.4(MVK):c.442G>A (p.Ala148Thr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2015
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:: RCV000214102.1

Allele description [Variation Report for NM_000431.4(MVK):c.442G>A (p.Ala148Thr)]

NM_000431.4(MVK):c.442G>A (p.Ala148Thr)

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.442G>A (p.Ala148Thr)

HGVS:

NC_000012.12:g.109581465G>A
NG_007702.1:g.12771G>A
NM_000431.4:c.442G>AMANE SELECT
NM_001114185.3:c.442G>A
NM_001301182.2:c.371+1519G>A
NP_000422.1:p.Ala148Thr
NP_001107657.1:p.Ala148Thr
LRG_156t1:c.442G>A
LRG_156:g.12771G>A
NC_000012.11:g.110019270G>A
NM_000431.1:c.442G>A
NM_000431.2:c.442G>A
NM_001114185.1:c.442G>A
Q03426:p.Ala148Thr

Protein change:

A148T

Links:

UniProtKB: Q03426#VAR_010960; dbSNP: rs104895298

NCBI 1000 Genomes Browser:

rs104895298

Molecular consequence:

NM_001301182.2:c.371+1519G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000431.4:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114185.3:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279118	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 1, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279118

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 1, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000279118.8

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

Description

The A148T missense mutation in the MVK gene has been reported previously in association with Hyper IgD syndrome (HIDS) (Houten et al., 2001). Another missense mutation at the same position, A148V, has also been published in association with HIDS (Bader-Meunier et al., 2011).

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

Last Updated: Oct 13, 2024

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