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NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 29, 2020
Accession:
VCV000191463.8
Variation ID:
191463
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)

Allele ID
189353
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045066 (GRCh38) GRCh38 UCSC
12: 5154232 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154232C>T
NC_000012.12:g.5045066C>T
NG_012198.1:g.6148C>T
NM_002234.4:c.919C>T MANE Select NP_002225.2:p.Pro307Ser missense
Protein change
P307S
Other names
-
Canonical SPDI
NC_000012.12:5045065:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00194
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00227
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00239
The Genome Aggregation Database (gnomAD), exomes 0.00218
Trans-Omics for Precision Medicine (TOPMed) 0.00226
The Genome Aggregation Database (gnomAD) 0.00227
The Genome Aggregation Database (gnomAD) 0.00241
Links
ClinGen: CA199821
dbSNP: rs17215409
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 Jun 24, 2013 RCV000171656.2
Likely benign 1 criteria provided, single submitter Dec 7, 2020 RCV000549885.4
Likely benign 2 criteria provided, single submitter Dec 29, 2020 RCV001589050.4
Benign 1 no assertion criteria provided - RCV001699140.1
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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
260 318

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
Method: research
altered potassium channel function
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000050685.2
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Likely benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000647005.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 29, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001825802.1
Submitted: (Sep 02, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 16411137, 24068186, 22402074, 21507821, 18209767, 15735608)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923734.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954525.1
Submitted: (Sep 30, 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.

Text-mined citations for rs17215409...

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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 Nov 27, 2021