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NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 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:
RCV000498076.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val)]

NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val)

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.3124C>G (p.Leu1042Val)
HGVS:
  • NC_000007.14:g.150947356G>C
  • NG_008916.1:g.35571C>G
  • NM_000238.4:c.3124C>GMANE SELECT
  • NM_172057.3:c.2104C>G
  • NP_000229.1:p.Leu1042Val
  • NP_000229.1:p.Leu1042Val
  • NP_742054.1:p.Leu702Val
  • LRG_288t1:c.3124C>G
  • LRG_288:g.35571C>G
  • LRG_288p1:p.Leu1042Val
  • NC_000007.13:g.150644444G>C
  • NM_000238.3:c.3124C>G
  • p.(Leu1024Val)
Protein change:
L1042V
Links:
dbSNP: rs1346047270
NCBI 1000 Genomes Browser:
rs1346047270
Molecular consequence:
  • NM_000238.4:c.3124C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.2104C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000579565Center for Human Genetics, University of Leuven
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 30, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Center for Human Genetics, University of Leuven, SCV000579565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022