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NM_002234.4(KCNA5):c.1354G>A (p.Val452Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 24, 2020)
Last evaluated:
Jan 1, 2017
Accession:
VCV000523450.3
Variation ID:
523450
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.1354G>A (p.Val452Ile)

Allele ID
514020
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045501 (GRCh38) GRCh38 UCSC
12: 5154667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154667G>A
NC_000012.12:g.5045501G>A
NG_012198.1:g.6583G>A
NM_002234.4:c.1354G>A MANE Select NP_002225.2:p.Val452Ile missense
Protein change
V452I
Other names
-
Canonical SPDI
NC_000012.12:5045500:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA383466301
dbSNP: rs1486417435
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 1, 2017 RCV000626820.1
Uncertain significance 1 criteria provided, single submitter Jan 1, 2016 RCV001195958.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNA5 - - GRCh38
GRCh37
254 312

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747523.1
Submitted: (Dec 08, 2017)
Evidence details
Uncertain significance
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366385.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP4.

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 rs1486417435...

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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