U.S. flag

An official website of the United States government

NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 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:
RCV000626630.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)]

NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)

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.1682C>T (p.Ala561Val)
Other names:
p.A561V:GCG>GTG
HGVS:
  • NC_000007.14:g.150951711G>A
  • NG_008916.1:g.31216C>T
  • NM_000238.4:c.1682C>TMANE SELECT
  • NM_001204798.2:c.662C>T
  • NM_001406753.1:c.1394C>T
  • NM_001406755.1:c.1505C>T
  • NM_001406756.1:c.1394C>T
  • NM_001406757.1:c.1382C>T
  • NM_172056.3:c.1682C>T
  • NM_172057.3:c.662C>T
  • NP_000229.1:p.Ala561Val
  • NP_000229.1:p.Ala561Val
  • NP_001191727.1:p.Ala221Val
  • NP_001393682.1:p.Ala465Val
  • NP_001393684.1:p.Ala502Val
  • NP_001393685.1:p.Ala465Val
  • NP_001393686.1:p.Ala461Val
  • NP_742053.1:p.Ala561Val
  • NP_742053.1:p.Ala561Val
  • NP_742054.1:p.Ala221Val
  • NP_742054.1:p.Ala221Val
  • LRG_288t1:c.1682C>T
  • LRG_288t2:c.1682C>T
  • LRG_288t3:c.662C>T
  • LRG_288:g.31216C>T
  • LRG_288p1:p.Ala561Val
  • LRG_288p2:p.Ala561Val
  • LRG_288p3:p.Ala221Val
  • NC_000007.13:g.150648799G>A
  • NM_000238.2:c.1682C>T
  • NM_000238.3:c.1682C>T
  • NM_172056.2:c.1682C>T
  • NM_172057.2:c.662C>T
  • NR_176254.1:n.2090C>T
  • NR_176255.1:n.963C>T
  • Q12809:p.Ala561Val
Protein change:
A221V; ALA561VAL
Links:
UniProtKB: Q12809#VAR_008580; OMIM: 152427.0001; dbSNP: rs121912504
NCBI 1000 Genomes Browser:
rs121912504
Molecular consequence:
  • NM_000238.4:c.1682C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1682C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
Name:
Prolonged QT interval
Identifiers:
MedGen: C0151878; Human Phenotype Ontology: HP:0001657

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
SCV000747331Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024