NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter) AND Atrial fibrillation, familial, 7

Clinical significance:Uncertain significance (Last evaluated: May 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000814042.3

Allele description [Variation Report for NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter)]

NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter)

Gene:
KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter)
HGVS:
  • NC_000012.12:g.5044769G>T
  • NG_012198.1:g.5851G>T
  • NM_002234.4:c.622G>TMANE SELECT
  • NP_002225.2:p.Glu208Ter
  • NC_000012.11:g.5153935G>T
Protein change:
E208*
Links:
dbSNP: rs745920419
NCBI 1000 Genomes Browser:
rs745920419
Molecular consequence:
  • NM_002234.4:c.622G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000954434Invitaecriteria provided, single submitter
Uncertain significance
(May 9, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis.

Baloira Villar A, Pousada Fernández G, Núñez Fernández M, Valverde Pérez D.

Arch Bronconeumol. 2015 Apr;51(4):e19-21. doi: 10.1016/j.arbres.2014.03.022. Epub 2014 Jun 18. English, Spanish.

PubMed [citation]
PMID:
24950668

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

Pousada G, Baloira A, Vilariño C, Cifrian JM, Valverde D.

PLoS One. 2014;9(6):e100261. doi: 10.1371/journal.pone.0100261.

PubMed [citation]
PMID:
24936649
PMCID:
PMC4061078
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000954434.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change results in a premature translational stop signal in the KCNA5 gene (p.Glu208*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 406 amino acids of the KCNA5 protein. This variant is present in population databases (rs745920419, ExAC 0.002%). This variant has been observed in several individuals affected with pulmonary hypertension, one of whom was also affected with sarcoidosis (PMID: 24950668, 24936649). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 8, 2022

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