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NM_000238.4(KCNH2):c.2692+1del AND Congenital long QT syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 31, 2017
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:
RCV004018345.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.2692+1del]

NM_000238.4(KCNH2):c.2692+1del

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.2692+1del
HGVS:
  • NC_000007.14:g.150948445del
  • NG_008916.1:g.34484del
  • NM_000238.4:c.2692+1delMANE SELECT
  • NM_001406753.1:c.2404+1del
  • NM_172057.3:c.1672+1del
  • LRG_288:g.34484del
  • NC_000007.13:g.150645533del
  • NC_000007.14:g.150948443delC
Molecular consequence:
  • NM_000238.4:c.2692+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406753.1:c.2404+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_172057.3:c.1672+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004848022Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Pathogenic
(Jan 31, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848022.1

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

Description

The c.2962+1delG variant in KCNH2 has not been previously reported in individuals with long QT syndrome or in large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Heterozygous loss of function of the KCNH2 gene is associated with long QT syndrome. In summary, although additional studies are required to fully establish its clinical significance, the c.2962+1delG variant is likely pathogenic for long QT syndrome in an autosomal dominant manner based on its predicted impact to the protein.

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

Last Updated: May 7, 2024