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NM_000238.4(KCNH2):c.1945+6T>C AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2023
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:
RCV000181831.6

Allele description [Variation Report for NM_000238.4(KCNH2):c.1945+6T>C]

NM_000238.4(KCNH2):c.1945+6T>C

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.1945+6T>C
HGVS:
  • NC_000007.14:g.150951442A>G
  • NG_008916.1:g.31485T>C
  • NM_000238.4:c.1945+6T>CMANE SELECT
  • NM_001204798.2:c.925+6T>C
  • NM_001406753.1:c.1657+6T>C
  • NM_001406755.1:c.1768+6T>C
  • NM_001406756.1:c.1657+6T>C
  • NM_001406757.1:c.1645+6T>C
  • NM_172056.3:c.1945+6T>C
  • NM_172057.3:c.925+6T>C
  • LRG_288t1:c.1945+6T>C
  • LRG_288:g.31485T>C
  • NC_000007.13:g.150648530A>G
  • NM_000238.2:c.1945+6T>C
  • NM_000238.3:c.1945+6T>C
Links:
dbSNP: rs794728380
NCBI 1000 Genomes Browser:
rs794728380
Molecular consequence:
  • NM_000238.4:c.1945+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204798.2:c.925+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406753.1:c.1657+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406755.1:c.1768+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406756.1:c.1657+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406757.1:c.1645+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172056.3:c.1945+6T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172057.3:c.925+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234134GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 4, 2023) 		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, SCV000234134.12

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

Description

Not observed in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect as the splice assays show that this variant results in the KCNH2 protein being retained in the endoplasmic reticulum (Zhang et al., 2004; De Conti et al., 2012); This variant is associated with the following publications: (PMID: 15364333, 22617876)

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

Last Updated: Sep 29, 2024