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NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 6, 2020
Accession:
VCV000579528.10
Variation ID:
579528
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile)

Allele ID
568090
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044944 (GRCh38) GRCh38 UCSC
12: 5154110 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154110C>T
NC_000012.12:g.5044944C>T
NG_012198.1:g.6026C>T
NM_002234.4:c.797C>T MANE Select NP_002225.2:p.Thr266Ile missense
Protein change
T266I
Other names
-
Canonical SPDI
NC_000012.12:5044943:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00012
The Genome Aggregation Database (gnomAD) 0.00016
Exome Aggregation Consortium (ExAC) 0.00013
Links
dbSNP: rs369750762
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 Apr 1, 2017 RCV000994785.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 6, 2020 RCV000702837.5
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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
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894792.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Likely benign
(Aug 06, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000831708.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148552.7
Submitted: (Jul 04, 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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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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs369750762...

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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