NM_000238.4(KCNH2):c.2713_2726delinsCA (p.Val905_Gly909delinsGln) AND Cardiac arrhythmia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 3, 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:: RCV001843077.10

Allele description [Variation Report for NM_000238.4(KCNH2):c.2713_2726delinsCA (p.Val905_Gly909delinsGln)]

NM_000238.4(KCNH2):c.2713_2726delinsCA (p.Val905_Gly909delinsGln)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2713_2726delinsCA (p.Val905_Gly909delinsGln)

HGVS:

NC_000007.14:g.150947845_150947858delinsTG
NG_008916.1:g.35069_35082delinsCA
NM_000238.4:c.2713_2726delinsCAMANE SELECT
NM_172057.3:c.1693_1706delinsCA
NP_000229.1:p.Val905_Gly909delinsGln
NP_742054.1:p.Val565_Gly569delinsGln
LRG_288t1:c.2713_2726delinsCA
LRG_288:g.35069_35082delinsCA
NC_000007.13:g.150644933_150644946delinsTG
NM_000238.3:c.2713_2726delinsCA

Links:

dbSNP: rs1800974049

NCBI 1000 Genomes Browser:

rs1800974049

Molecular consequence:

NM_000238.4:c.2713_2726delinsCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_172057.3:c.1693_1706delinsCA - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Cardiac arrhythmia
Synonyms:: Cardiac rhythm disease
Identifiers:: EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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Mus musculus BUB1B, mitotic checkpoint serine/threonine kinase (Bub1b), mRNA
Mus musculus BUB1B, mitotic checkpoint serine/threonine kinase (Bub1b), mRNA
gi|157951691|ref|NM_009773.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001345776	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 3, 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

SCV001345776

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 3, 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

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, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001345776.2

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

Description

This variant causes in-frame deletion of 5 amino acids and insertion of 1 amino acid at exon 12 of the KCNH2 protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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: Oct 26, 2024

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