NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182032.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)]

NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)

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.1847A>G (p.Tyr616Cys)
Other names:
p.Y616C:TAC>TGC
HGVS:
  • NC_000007.14:g.150951546T>C
  • NG_008916.1:g.31381A>G
  • NM_000238.3:c.1847A>G
  • NM_000238.4:c.1847A>GMANE SELECT
  • NM_001204798.2:c.827A>G
  • NM_172056.2:c.1847A>G
  • NM_172057.3:c.827A>G
  • NP_000229.1:p.Tyr616Cys
  • NP_000229.1:p.Tyr616Cys
  • NP_001191727.1:p.Tyr276Cys
  • NP_742053.1:p.Tyr616Cys
  • NP_742054.1:p.Tyr276Cys
  • LRG_288t1:c.1847A>G
  • LRG_288t2:c.1847A>G
  • LRG_288:g.31381A>G
  • LRG_288p1:p.Tyr616Cys
  • LRG_288p2:p.Tyr616Cys
  • NC_000007.13:g.150648634T>C
  • NM_000238.2:c.1847A>G
  • Q12809:p.Tyr616Cys
Protein change:
Y276C
Links:
UniProtKB: Q12809#VAR_074849; dbSNP: rs199472946
NCBI 1000 Genomes Browser:
rs199472946
Molecular consequence:
  • NM_000238.3:c.1847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000238.4:c.1847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.827A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.2:c.1847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.827A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234335GeneDxcriteria provided, single submitter
Pathogenic
(Apr 12, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234335.8

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

Description

Observed in individuals with LQTS referred for genetic testing at Genedx and in the published literature (Kapplinger et al., 2009); Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrate Y616C generated minimal current, suggesting altered channel permeability as a mechanism that leads to loss of function (Anderson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a likely pathogenic variant (ClinVar Variant ID 67295; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 19716085, 25417810)

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

Last Updated: Oct 25, 2021

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