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NM_000238.4(KCNH2):c.1014del (p.Asn339fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 2, 2014
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:
RCV000181969.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.1014del (p.Asn339fs)]

NM_000238.4(KCNH2):c.1014del (p.Asn339fs)

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.1014del (p.Asn339fs)
HGVS:
  • NC_000007.14:g.150957405del
  • NG_008916.1:g.25522del
  • NM_000238.4:c.1014delMANE SELECT
  • NM_001406753.1:c.726delC
  • NM_001406755.1:c.837delC
  • NM_001406756.1:c.726delC
  • NM_001406757.1:c.714delC
  • NM_172056.3:c.1014delC
  • NP_000229.1:p.Asn339Thrfs
  • NP_000229.1:p.Asn339fs
  • NP_001393682.1:p.Asn243Thrfs
  • NP_001393684.1:p.Asn280Thrfs
  • NP_001393685.1:p.Asn243Thrfs
  • NP_001393686.1:p.Asn239Thrfs
  • NP_742053.1:p.Asn339Thrfs
  • NP_742053.1:p.Asn339fs
  • LRG_288t1:c.1014del
  • LRG_288t2:c.1014del
  • LRG_288:g.25522del
  • LRG_288p1:p.Asn339Thrfs
  • LRG_288p2:p.Asn339fs
  • NC_000007.13:g.150654493del
  • NM_000238.2:c.1014delC
  • NM_000238.3:c.1014delC
  • NM_172056.2:c.1014del
  • NR_176254.1:n.1422delC
  • p.N339TfsX21
Protein change:
N339fs
Links:
dbSNP: rs794728431
NCBI 1000 Genomes Browser:
rs794728431
Molecular consequence:
  • NM_000238.4:c.1014del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406753.1:c.726delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406755.1:c.837delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406756.1:c.726delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406757.1:c.714delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172056.3:c.1014delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234272GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 2, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234272.9

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

Description

Although the c.1014delC mutation in the KCNH2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Asparagine339, changing it to a Threonine, and creating a premature stop codon at position 21 of the new reading frame, denoted p.Asn339ThrfsX21. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.1014delC in the KCNH2 gene is interpreted as a disease-causing mutation.

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

Last Updated: Nov 5, 2022