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NM_002234.4(KCNA5):c.106T>A (p.Cys36Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 31, 2020
Accession:
VCV000566847.3
Variation ID:
566847
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.106T>A (p.Cys36Ser)

Allele ID
566861
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5153419 (GRCh37) GRCh37 UCSC
12: 5044253 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153419T>A
NC_000012.12:g.5044253T>A
NG_012198.1:g.5335T>A
NM_002234.4:c.106T>A MANE Select NP_002225.2:p.Cys36Ser missense
Protein change
C36S
Other names
-
Canonical SPDI
NC_000012.12:5044252:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00009
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs910072879
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 31, 2020 RCV000686772.3
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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
262 321

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 31, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000814305.3
Submitted: (Jan 07, 2021)
Publications:
PubMed (1)
PubMed: 28492532
Comment:
This sequence change replaces cysteine with serine at codon 36 of the KCNA5 protein (p.Cys36Ser). The cysteine residue is weakly conserved and there is a … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs910072879...

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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 Jan 08, 2022