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NM_000238.4(KCNH2):c.2966-2_2967dup AND Cardiac arrhythmia

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV001842851.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.2966-2_2967dup]

NM_000238.4(KCNH2):c.2966-2_2967dup

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.2966-2_2967dup
HGVS:
  • NC_000007.14:g.150947515_150947518dup
  • NG_008916.1:g.35411_35414dup
  • NM_000238.4:c.2966-2_2967dupMANE SELECT
  • NM_172057.3:c.1946-2_1947dup
  • LRG_288:g.35411_35414dup
  • NC_000007.13:g.150644600_150644601insGCCT
  • NC_000007.13:g.150644603_150644606dup
  • NM_000238.2:c.2966-2_2967dupAGGC
  • p.A990RfsX130
Links:
dbSNP: rs794728464
NCBI 1000 Genomes Browser:
rs794728464
Molecular consequence:
  • NM_000238.4:c.2966-2_2967dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_172057.3:c.1946-2_1947dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234306.2

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

Description

The c.2966-2_2967dupAGGC mutation in the KCNH2 gene causes a shift in reading frame starting at codon Alanine 990, changing it to an Arginine, and creating a premature stop codon at position 130 of the new reading frame. This mutation is expected to result either in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. While this duplication includes nucleotides at the splice acceptor site of exon 13, this mutation is not predicted to result in abnormal gene splicing. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. The variant is found in LQT panel(s).

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234306GeneDx
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000234306 appears to be redundant with SCV001829667.

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 20, 2013) 		germlineclinical testing

Citation Link

Last Updated: Nov 3, 2024