NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) AND Long QT syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 8, 2019
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:
RCV000851290.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)]

NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)

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.1979C>T (p.Ser660Leu)
Other names:
p.S660L:TCG>TTG
HGVS:
  • NC_000007.14:g.150951087G>A
  • NG_008916.1:g.31840C>T
  • NM_000238.4:c.1979C>TMANE SELECT
  • NM_001204798.2:c.959C>T
  • NM_001406753.1:c.1691C>T
  • NM_001406755.1:c.1802C>T
  • NM_001406756.1:c.1691C>T
  • NM_001406757.1:c.1679C>T
  • NM_172056.3:c.1979C>T
  • NM_172057.3:c.959C>T
  • NP_000229.1:p.Ser660Leu
  • NP_000229.1:p.Ser660Leu
  • NP_001191727.1:p.Ser320Leu
  • NP_001393682.1:p.Ser564Leu
  • NP_001393684.1:p.Ser601Leu
  • NP_001393685.1:p.Ser564Leu
  • NP_001393686.1:p.Ser560Leu
  • NP_742053.1:p.Ser660Leu
  • NP_742053.1:p.Ser660Leu
  • NP_742054.1:p.Ser320Leu
  • NP_742054.1:p.Ser320Leu
  • LRG_288t1:c.1979C>T
  • LRG_288t2:c.1979C>T
  • LRG_288t3:c.959C>T
  • LRG_288:g.31840C>T
  • LRG_288p1:p.Ser660Leu
  • LRG_288p2:p.Ser660Leu
  • LRG_288p3:p.Ser320Leu
  • NC_000007.13:g.150648175G>A
  • NM_000238.2:c.1979C>T
  • NM_000238.3:c.1979C>T
  • NM_172056.2:c.1979C>T
  • NM_172057.2:c.959C>T
  • NR_176254.1:n.2387C>T
  • NR_176255.1:n.1260C>T
  • Q12809:p.Ser660Leu
Protein change:
S320L
Links:
UniProtKB: Q12809#VAR_074865; dbSNP: rs199472979
NCBI 1000 Genomes Browser:
rs199472979
Molecular consequence:
  • NM_000238.4:c.1979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1679C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.959C>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000993562HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI_GT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 8, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown2not providednot provided2not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI_GT, SCV000993562.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided
2unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024