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NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 11, 2012
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:
RCV000182193.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)]

NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)
Other names:
p.E508*:GAA>TAA; p.Glu508X
HGVS:
  • NC_000011.10:g.2768851G>T
  • NG_008935.1:g.328861G>T
  • NM_000218.3:c.1522G>TMANE SELECT
  • NM_001406836.1:c.1426G>T
  • NM_001406837.1:c.1252G>T
  • NM_001406838.1:c.982G>T
  • NM_181798.2:c.1141G>T
  • NP_000209.2:p.Glu508Ter
  • NP_000209.2:p.Glu508Ter
  • NP_001393765.1:p.Glu476Ter
  • NP_001393766.1:p.Glu418Ter
  • NP_001393767.1:p.Glu328Ter
  • NP_861463.1:p.Glu381Ter
  • NP_861463.1:p.Glu381Ter
  • LRG_287t1:c.1522G>T
  • LRG_287t2:c.1141G>T
  • LRG_287:g.328861G>T
  • LRG_287p1:p.Glu508Ter
  • LRG_287p2:p.Glu381Ter
  • NC_000011.9:g.2790081G>T
  • NM_000218.2:c.1522G>T
  • NM_181798.1:c.1141G>T
  • NR_040711.2:n.1415G>T
Protein change:
E328*
Links:
dbSNP: rs794728530
NCBI 1000 Genomes Browser:
rs794728530
Molecular consequence:
  • NM_000218.3:c.1522G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406836.1:c.1426G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406837.1:c.1252G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406838.1:c.982G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181798.2:c.1141G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234496GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 11, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234496.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Glu508Stop (GAA>TAA): c.1522 G>T in exon 12 of the KCNQ1 gene (NM_000218.2). The Glu508Stop mutation in the KCNQ1 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Glu508Stop is predicted to cause loss of normal protein function either due to a prematurely truncated protein or absent protein product due to nonsense mediated mRNA decay. Other nonsense mutations in the KCNQ1 gene (Gln505Stop, Gln530Stop) have been reported in association with arrythmias. In summary, Glu508Stop in the KCNQ1 gene is interpreted to be a disease-causing mutation. The variant is found in LQT panel(s).

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

Last Updated: Mar 26, 2023