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NM_000431.4(MVK):c.78+177G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 7, 2021)
Last evaluated:
Mar 3, 2015
Accession:
VCV000097622.4
Variation ID:
97622
Description:
single nucleotide variant
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NM_000431.4(MVK):c.78+177G>A

Allele ID
103514
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109575077 (GRCh38) GRCh38 UCSC
12: 110012882 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_156:g.6383G>A
NC_000012.11:g.110012882G>A
NC_000012.12:g.109575077G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109575076:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00204
1000 Genomes Project 0.00379
Trans-Omics for Precision Medicine (TOPMed) 0.00305
Links
ClinGen: CA149896
dbSNP: rs104895343
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001610385.3
not provided 1 no assertion provided - RCV000083874.1
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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
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001837398.1
Submitted: (Sep 07, 2021)
Evidence details
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: SCV000115979.1
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 rs104895343...

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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 Sep 29, 2021