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NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 12, 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:
RCV001008765.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs)]

NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs)

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.3133_3136del (p.Leu1045fs)
HGVS:
  • NC_000007.14:g.150947346_150947349del
  • NG_008916.1:g.35580_35583del
  • NM_000238.4:c.3133_3136delMANE SELECT
  • NM_172057.3:c.2113_2116del
  • NP_000229.1:p.Leu1045fs
  • NP_742054.1:p.Leu705fs
  • LRG_288:g.35580_35583del
  • NC_000007.13:g.150644434_150644437del
  • NM_000238.2:c.3133_3136del
  • NM_000238.2:c.3133_3136delCTCC
Protein change:
L1045fs
Links:
dbSNP: rs1584842898
NCBI 1000 Genomes Browser:
rs1584842898
Molecular consequence:
  • NM_000238.4:c.3133_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172057.3:c.2113_2116del - 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
SCV001168553GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 12, 2020) 		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, SCV001168553.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease

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

Last Updated: Nov 5, 2022