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NM_000431.4(MVK):c.258G>A (p.Glu86=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 26, 2020
Accession:
VCV000881172.2
Variation ID:
881172
Description:
single nucleotide variant
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NM_000431.4(MVK):c.258G>A (p.Glu86=)

Allele ID
869220
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109579833 (GRCh38) GRCh38 UCSC
12: 110017638 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110017638G>A
NC_000012.12:g.109579833G>A
NM_000431.4:c.258G>A MANE Select NP_000422.1:p.Glu86= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109579832:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001110009.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001114048.1
Benign 1 criteria provided, single submitter Jun 26, 2020 RCV001520566.1
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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
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin D with periodic fever
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001267394.1
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001271877.1
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)
Benign
(Jun 26, 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: SCV001729695.1
Submitted: (Jan 07, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021