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NM_000238.4(KCNH2):c.308-2A>G AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 2018
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:
RCV000427208.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.308-2A>G]

NM_000238.4(KCNH2):c.308-2A>G

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.308-2A>G
HGVS:
  • NC_000007.14:g.150959738T>C
  • NG_008916.1:g.23189A>G
  • NM_000238.4:c.308-2A>GMANE SELECT
  • NM_001406753.1:c.18A>G
  • NM_001406755.1:c.131-2A>G
  • NM_001406756.1:c.18A>G
  • NM_001406757.1:c.8-2A>G
  • NM_172056.3:c.308-2A>G
  • NP_001393682.1:p.Ala6=
  • NP_001393685.1:p.Ala6=
  • LRG_288t1:c.308-2A>G
  • LRG_288:g.23189A>G
  • NC_000007.13:g.150656826T>C
  • NM_000238.2:c.308-2A>G
  • NM_000238.3:c.308-2A>G
Links:
dbSNP: rs1057520598
NCBI 1000 Genomes Browser:
rs1057520598
Molecular consequence:
  • NM_000238.4:c.308-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406755.1:c.131-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406757.1:c.8-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_172056.3:c.308-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406753.1:c.18A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406756.1:c.18A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000516544GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 6, 2018) 		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, SCV000516544.3

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

Description

The c.308-2 A>G variant has been reported previously in association with LQTS (Berge K et al., 2008). This substitution destroys the canonical splice acceptor site in intron 2 and is predicted to cause abnormal gene splicing. Other splice site variants in theKCNH2 gene have been reported in the Human Gene Mutation Database in association with LQTS (Stenson P et al., 2014). Furthermore, the c.308-2 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Based on currently available evidence, c.308-2 A>G is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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

Last Updated: Sep 29, 2024