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NM_000431.4(MVK):c.527+10G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 19, 2020
Accession:
VCV000791747.4
Variation ID:
791747
Description:
single nucleotide variant
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NM_000431.4(MVK):c.527+10G>A

Allele ID
779494
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109581560 (GRCh38) GRCh38 UCSC
12: 110019365 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_156:g.12866G>A
LRG_156t1:c.527+10G>A
NC_000012.11:g.110019365G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109581559:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
dbSNP: rs368909134
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 19, 2020 RCV000974783.3
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001112788.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001114133.1
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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
Likely benign
(Aug 19, 2020)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Allele origin: germline
Invitae
Accession: SCV001122647.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270484.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin D with periodic fever
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001271973.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs368909134...

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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 Oct 08, 2021