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NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) AND Long QT syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 26, 2015
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:
RCV000208076.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)]

NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)

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.1874T>C (p.Val625Ala)
HGVS:
  • NC_000007.14:g.150951519A>G
  • NG_008916.1:g.31408T>C
  • NM_000238.4:c.1874T>CMANE SELECT
  • NM_001204798.2:c.854T>C
  • NM_001406753.1:c.1586T>C
  • NM_001406755.1:c.1697T>C
  • NM_001406756.1:c.1586T>C
  • NM_001406757.1:c.1574T>C
  • NM_172056.3:c.1874T>C
  • NM_172057.3:c.854T>C
  • NP_000229.1:p.Val625Ala
  • NP_000229.1:p.Val625Ala
  • NP_001191727.1:p.Val285Ala
  • NP_001393682.1:p.Val529Ala
  • NP_001393684.1:p.Val566Ala
  • NP_001393685.1:p.Val529Ala
  • NP_001393686.1:p.Val525Ala
  • NP_742053.1:p.Val625Ala
  • NP_742053.1:p.Val625Ala
  • NP_742054.1:p.Val285Ala
  • NP_742054.1:p.Val285Ala
  • LRG_288t1:c.1874T>C
  • LRG_288t2:c.1874T>C
  • LRG_288t3:c.854T>C
  • LRG_288:g.31408T>C
  • LRG_288p1:p.Val625Ala
  • LRG_288p2:p.Val625Ala
  • LRG_288p3:p.Val285Ala
  • NC_000007.13:g.150648607A>G
  • NM_000238.3:c.1874T>C
  • NM_172056.2:c.1874T>C
  • NM_172057.2:c.854T>C
  • NR_176254.1:n.2282T>C
  • NR_176255.1:n.1155T>C
Protein change:
V285A
Links:
dbSNP: rs199472951
NCBI 1000 Genomes Browser:
rs199472951
Molecular consequence:
  • NM_000238.4:c.1874T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1874T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Long QT syndrome 2 (LQT2)
Identifiers:
MONDO: MONDO:0013367; MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000263977Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Likely pathogenic
(Nov 26, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000263977.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024