NM_002234.4(KCNA5):c.677_680dup (p.Arg229fs) AND Atrial fibrillation, familial, 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 2021
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:: RCV002532701.2

Allele description [Variation Report for NM_002234.4(KCNA5):c.677_680dup (p.Arg229fs)]

NM_002234.4(KCNA5):c.677_680dup (p.Arg229fs)

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.677_680dup (p.Arg229fs)

HGVS:

NC_000012.12:g.5044824_5044827dup
NG_012198.1:g.5906_5909dup
NM_002234.2:c.677_680dup
NM_002234.4:c.677_680dupMANE SELECT
NP_002225.2:p.Arg229fs
NC_000012.11:g.5153989_5153990insCCCT
NC_000012.11:g.5153990_5153993dup
NM_002234.2:c.677_680dupCCCT

Protein change:

R229fs

Links:

dbSNP: rs1387839123

NCBI 1000 Genomes Browser:

rs1387839123

Molecular consequence:

NM_002234.4:c.677_680dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003510430	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 4, 2021)	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

SCV003510430

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 4, 2021)

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, SCV003510430.1

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

Description

This sequence change creates a premature translational stop signal (p.Arg229Alafs*47) in the KCNA5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 385 amino acid(s) of the KCNA5 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 504248). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#	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: Nov 3, 2024

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