NM_002234.4(KCNA5):c.1554dup (p.Phe519fs) AND Atrial fibrillation, familial, 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 14, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001372866.5

Allele description [Variation Report for NM_002234.4(KCNA5):c.1554dup (p.Phe519fs)]

NM_002234.4(KCNA5):c.1554dup (p.Phe519fs)

Gene:

KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12p13.32

Genomic location:

Preferred name:

NM_002234.4(KCNA5):c.1554dup (p.Phe519fs)

HGVS:

NC_000012.12:g.5045701dup
NG_012198.1:g.6783dup
NM_002234.4:c.1554dupMANE SELECT
NP_002225.2:p.Phe519fs
NC_000012.11:g.5154866_5154867insC
NC_000012.11:g.5154867dup

Protein change:

F519fs

Links:

dbSNP: rs2137773724

NCBI 1000 Genomes Browser:

rs2137773724

Molecular consequence:

NM_002234.4:c.1554dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Atrial fibrillation, familial, 7 (ATFB7)
Identifiers:: MONDO: MONDO:0012828; MedGen: C2677106; OMIM: 612240

Recent activity

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Cycloleucine
Cycloleucine
An amino acid formed by cyclization of leucine. It has cytostatic, immunosuppressive and antineoplastic activities. Year introduced: 1991(1975)

MeSH
Protein Array Analysis
Protein Array Analysis
Ligand-binding assays that measure protein-protein, protein-small molecule, or protein-nucleic acid interactions using a very large set of capturing molecules, i.e., those att... Year introduced: 2003

MeSH
Electrophoresis, Polyacrylamide Gel
Electrophoresis, Polyacrylamide Gel
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium. Year introduced: 1973

MeSH
Drug Screening Assays, Antitumor
Drug Screening Assays, Antitumor
Methods of investigating the effectiveness of anticancer cytotoxic drugs and biologic inhibitors. These include in vitro cell-kill models and cytostatic dye exclusion tests as... Year introduced: 1988

MeSH
Neoplasms, Experimental
Neoplasms, Experimental
Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms. 

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001569557	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 14, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001569557

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 14, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001569557.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with KCNA5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the KCNA5 gene (p.Phe519Leufs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 95 amino acids of the KCNA5 protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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