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NM_002234.4(KCNA5):c.629T>C (p.Met210Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 31, 2019
Accession:
VCV000658568.3
Variation ID:
658568
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.629T>C (p.Met210Thr)

Allele ID
641191
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044776 (GRCh38) GRCh38 UCSC
12: 5153942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153942T>C
NC_000012.12:g.5044776T>C
NG_012198.1:g.5858T>C
NM_002234.4:c.629T>C MANE Select NP_002225.2:p.Met210Thr missense
Protein change
M210T
Other names
-
Canonical SPDI
NC_000012.12:5044775:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1228879118
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 Aug 31, 2019 RCV000815419.3
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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
(Aug 31, 2019)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000955870.3
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces methionine with threonine at codon 210 of the KCNA5 protein (p.Met210Thr). The methionine residue is moderately 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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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 rs1228879118...

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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