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NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 2022
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:
RCV002428783.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys)]

NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys)

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.2669C>G (p.Ser890Cys)
HGVS:
  • NC_000007.14:g.150948467G>C
  • NG_008916.1:g.34460C>G
  • NM_000238.4:c.2669C>GMANE SELECT
  • NM_001406753.1:c.2381C>G
  • NM_172057.3:c.1649C>G
  • NP_000229.1:p.Ser890Cys
  • NP_000229.1:p.Ser890Cys
  • NP_001393682.1:p.Ser794Cys
  • NP_742054.1:p.Ser550Cys
  • NP_742054.1:p.Ser550Cys
  • LRG_288t1:c.2669C>G
  • LRG_288t3:c.1649C>G
  • LRG_288:g.34460C>G
  • LRG_288p1:p.Ser890Cys
  • LRG_288p3:p.Ser550Cys
  • NC_000007.13:g.150645555G>C
  • NM_000238.3:c.2669C>G
  • NM_172057.2:c.1649C>G
  • NR_176254.1:n.3077C>G
  • NR_176255.1:n.1950C>G
Protein change:
S550C
Molecular consequence:
  • NM_000238.4:c.2669C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2381C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1649C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002743854Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 25, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

Riuró H, Campuzano O, Berne P, Arbelo E, Iglesias A, Pérez-Serra A, Coll-Vidal M, Partemi S, Mademont-Soler I, Picó F, Allegue C, Oliva A, Gerstenfeld E, Sarquella-Brugada G, Castro-Urda V, Fernández-Lozano I, Mont L, Brugada J, Scornik FS, Brugada R.

Eur J Hum Genet. 2015 Jan;23(1):79-85. doi: 10.1038/ejhg.2014.54. Epub 2014 Mar 26.

PubMed [citation]
PMID:
24667783
PMCID:
PMC4266740

Details of each submission

From Ambry Genetics, SCV002743854.2

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

Description

The p.S890C variant (also known as c.2669C>G), located in coding exon 11 of the KCNH2 gene, results from a C to G substitution at nucleotide position 2669. The serine at codon 890 is replaced by cysteine, an amino acid with dissimilar properties. This alteration has been reported in a long Q syndrome (LQTS) cohort (Riuró H et al. Eur J Hum Genet, 2015 Jan;23:79-85). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024