NM_000238.4(KCNH2):c.80del (p.Arg27fs) AND Long QT syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 16, 2021
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:
RCV002244292.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.80del (p.Arg27fs)]

NM_000238.4(KCNH2):c.80del (p.Arg27fs)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.80del (p.Arg27fs)
HGVS:
  • NC_000007.14:g.150974938del
  • NG_008916.1:g.7989del
  • NM_000238.4:c.80delMANE SELECT
  • NM_001406755.1:c.-98delG
  • NM_172056.3:c.80delG
  • NP_000229.1:p.Arg27Leufs
  • NP_000229.1:p.Arg27fs
  • NP_742053.1:p.Arg27Leufs
  • NP_742053.1:p.Arg27fs
  • LRG_288t1:c.80del
  • LRG_288t2:c.80del
  • LRG_288:g.7989del
  • LRG_288p1:p.Arg27Leufs
  • LRG_288p2:p.Arg27fs
  • NC_000007.13:g.150672026del
  • NM_000238.3:c.80delG
  • NM_172056.2:c.80del
  • NR_176254.1:n.488delG
Protein change:
R27fs
Links:
dbSNP: rs2117063981
NCBI 1000 Genomes Browser:
rs2117063981
Molecular consequence:
  • NM_000238.4:c.80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172056.3:c.80delG - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002512764Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PM2 moderate

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

Last Updated: Dec 24, 2023