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NM_000238.4(KCNH2):c.2104del (p.Gln702fs) AND Long QT syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2022
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:
RCV002923698.2

Allele description

NM_000238.4(KCNH2):c.2104del (p.Gln702fs)

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.2104del (p.Gln702fs)
HGVS:
  • NC_000007.14:g.150950963del
  • NG_008916.1:g.31965del
  • NM_000238.4:c.2104delMANE SELECT
  • NM_001204798.2:c.1084del
  • NM_001406753.1:c.1815delC
  • NM_001406755.1:c.1926delC
  • NM_001406756.1:c.1815delC
  • NM_001406757.1:c.1803delC
  • NM_172056.3:c.2103delC
  • NM_172057.3:c.1084del
  • NP_000229.1:p.Gln702Serfs
  • NP_000229.1:p.Gln702fs
  • NP_001191727.1:p.Gln362fs
  • NP_001393682.1:p.Gln606Serfs
  • NP_001393684.1:p.Gln643Serfs
  • NP_001393685.1:p.Gln606Serfs
  • NP_001393686.1:p.Gln602Serfs
  • NP_742053.1:p.Gln702Serfs
  • NP_742053.1:p.Gln702fs
  • NP_742054.1:p.Gln362Serfs
  • NP_742054.1:p.Gln362fs
  • LRG_288t1:c.2103del
  • LRG_288t2:c.2104del
  • LRG_288t3:c.1083del
  • LRG_288:g.31965del
  • LRG_288p1:p.Gln702Serfs
  • LRG_288p2:p.Gln702fs
  • LRG_288p3:p.Gln362Serfs
  • NC_000007.13:g.150648050del
  • NC_000007.13:g.150648051del
  • NM_000238.3:c.2103delC
  • NM_172056.2:c.2104del
  • NM_172057.2:c.1083delC
  • NR_176254.1:n.2511delC
  • NR_176255.1:n.1384delC
Protein change:
Q362fs
Molecular consequence:
  • NM_000238.4:c.2104del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001204798.2:c.1084del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406753.1:c.1815delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406755.1:c.1926delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406756.1:c.1815delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406757.1:c.1803delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172056.3:c.2103delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172057.3:c.1084del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003273669Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 1, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.

Circulation. 2000 Sep 5;102(10):1178-85.

PubMed [citation]
PMID:
10973849

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M.

Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Review.

PubMed [citation]
PMID:
19862833
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003273669.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln702Serfs*12) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 10973849, 19862833).

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

Last Updated: Feb 20, 2024