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NM_000431.4(MVK):c.748G>A (p.Val250Ile)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jun 7, 2010)
Accession:
VCV000097616.1
Variation ID:
97616
Description:
single nucleotide variant
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NM_000431.4(MVK):c.748G>A (p.Val250Ile)

Allele ID
103508
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109590841 (GRCh38) GRCh38 UCSC
12: 110028646 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110028646G>A
NC_000012.12:g.109590841G>A
NM_000431.4:c.748G>A MANE Select NP_000422.1:p.Val250Ile missense
... more HGVS
Protein change
V250I, V198I
Other names
-
Canonical SPDI
NC_000012.12:109590840:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs104895339
ClinGen: CA149887
UniProtKB: Q03426#VAR_029523
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000083868.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MVK - - GRCh38
GRCh37
333 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
Hyperimmunoglobulin D with periodic fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115973.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. D'Osualdo A European journal of human genetics : EJHG 2005 PMID: 15536479

Text-mined citations for rs104895339...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 17, 2020