NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) AND Cardiac arrhythmia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV001842618.9

Allele description [Variation Report for NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)]

NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
HGVS:
  • NC_000007.14:g.150947390del
  • NG_008916.1:g.35539del
  • NM_000238.4:c.3092delMANE SELECT
  • NM_172057.3:c.2072del
  • NP_000229.1:p.Gly1031fs
  • NP_742054.1:p.Gly691fs
  • LRG_288t1:c.3092del
  • LRG_288:g.35539del
  • NC_000007.13:g.150644476del
  • NC_000007.13:g.150644478del
  • NM_000238.3:c.3092delG
Protein change:
G1031fs
Links:
dbSNP: rs1800940404
NCBI 1000 Genomes Browser:
rs1800940404
Molecular consequence:
  • NM_000238.4:c.3092del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172057.3:c.2072del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001338647Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Apr 20, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338647.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: KCNH2 c.3092delG (p.Gly1031ValfsX26) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 147244 control chromosomes. To our knowledge, no occurrence of c.3092delG in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Oct 26, 2024