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NM_002234.4(KCNA5):c.1149_1150inv (p.Gly384Arg)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000469582.4
Variation ID:
469582
Description:
2bp inversion
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NM_002234.4(KCNA5):c.1149_1150inv (p.Gly384Arg)

Allele ID
463166
Variant type
Inversion
Variant length
2 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045296-5045297 (GRCh38) GRCh38 UCSC
12: 5154462-5154463 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154462_5154463inv
NC_000012.12:g.5045296_5045297inv
NM_002234.4:c.1149_1150inv MANE Select NP_002225.2:p.Gly384Arg missense
... more HGVS
Protein change
G384R
Other names
-
Canonical SPDI
NC_000012.12:5045295:TG:CA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658658115
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000546883.5
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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
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000646976.5
Submitted: (Jan 07, 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.

Record last updated Jun 14, 2021