U.S. flag

An official website of the United States government

NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) AND Long QT syndrome 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000210414.10

Allele description [Variation Report for NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)]

NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)

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.2660G>A (p.Arg887His)
HGVS:
  • NC_000007.14:g.150948476C>T
  • NG_008916.1:g.34451G>A
  • NM_000238.4:c.2660G>AMANE SELECT
  • NM_172057.3:c.1640G>A
  • NP_000229.1:p.Arg887His
  • NP_000229.1:p.Arg887His
  • NP_742054.1:p.Arg547His
  • LRG_288t1:c.2660G>A
  • LRG_288:g.34451G>A
  • LRG_288p1:p.Arg887His
  • NC_000007.13:g.150645564C>T
  • NM_000238.2:c.2660G>A
  • NM_000238.3:c.2660G>A
  • Q12809:p.Arg887His
Protein change:
R547H
Links:
UniProtKB: Q12809#VAR_068281; dbSNP: rs199473432
NCBI 1000 Genomes Browser:
rs199473432
Molecular consequence:
  • NM_000238.4:c.2660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1640G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190245CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
criteria provided, single submitter

(Amendola et al. (Genome Res. 2015))		Uncertain significance
(Jun 1, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Low GERP score may suggest that this variant may belong in a lower pathogenicity class

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

Last Updated: Nov 3, 2024