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NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 15, 2019
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:
RCV001192539.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)]

NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)

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.3087_3096delinsGC (p.Ser1029fs)
HGVS:
  • NC_000007.14:g.150947384_150947393delinsGC
  • NG_008916.1:g.35534_35543delinsGC
  • NM_000238.4:c.3087_3096delinsGCMANE SELECT
  • NM_172057.3:c.2067_2076delinsGC
  • NP_000229.1:p.Ser1029fs
  • NP_742054.1:p.Ser689fs
  • LRG_288:g.35534_35543delinsGC
  • NC_000007.13:g.150644472_150644481delinsGC
Protein change:
S1029fs
Links:
dbSNP: rs1554424085
NCBI 1000 Genomes Browser:
rs1554424085
Molecular consequence:
  • NM_000238.4:c.3087_3096delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172057.3:c.2067_2076delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001360750Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 15, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.

Kupershmidt S, Yang T, Chanthaphaychith S, Wang Z, Towbin JA, Roden DM.

J Biol Chem. 2002 Jul 26;277(30):27442-8. Epub 2002 May 20.

PubMed [citation]
PMID:
12021266

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360750.1

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

Description

Variant summary: KCNH2 c.3087_3096delinsGC (p.Ser1029ArgfsX87) results in a premature termination codon, predicted to cause a truncation of the encoded protein, however may not result in nonsense mediated decay. While the effect of this variant is unknown, mutations in the c-terminal domain may impact protein trafficing (Kupershmidt_2002). The variant was absent in 145596 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3087_3096delinsGC in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS - possibly pathogenic variant.

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

Last Updated: Sep 29, 2024