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NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2016
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:
RCV000618009.11

Allele description [Variation Report for NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)]

NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)

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.730C>T (p.Gln244Ter)
HGVS:
  • NC_000011.10:g.2572059C>T
  • NG_008935.1:g.132069C>T
  • NM_000218.3:c.730C>TMANE SELECT
  • NM_001406836.1:c.730C>T
  • NM_001406837.1:c.460C>T
  • NM_181798.2:c.349C>T
  • NP_000209.2:p.Gln244Ter
  • NP_000209.2:p.Gln244Ter
  • NP_001393765.1:p.Gln244Ter
  • NP_001393766.1:p.Gln154Ter
  • NP_861463.1:p.Gln117Ter
  • NP_861463.1:p.Gln117Ter
  • LRG_287t1:c.730C>T
  • LRG_287t2:c.349C>T
  • LRG_287:g.132069C>T
  • LRG_287p1:p.Gln244Ter
  • LRG_287p2:p.Gln117Ter
  • NC_000011.9:g.2593289C>T
  • NM_000218.2:c.730C>T
  • NM_181798.1:c.349C>T
  • NR_040711.2:n.623C>T
Protein change:
Q117*
Links:
dbSNP: rs1554893091
NCBI 1000 Genomes Browser:
rs1554893091
Molecular consequence:
  • NM_000218.3:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406836.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406837.1:c.460C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181798.2:c.349C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000737836Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 3, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000737836.5

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

Description

The p.Q244* pathogenic mutation (also known as c.730C>T), located in coding exon 5 of the KCNQ1 gene, results from a C to T substitution at nucleotide position 730. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024