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NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 2013
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:
RCV000182160.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=)]

NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=)

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.1032G>C (p.Ala344=)
Other names:
p.A344A:GCG>GCC
HGVS:
  • NC_000011.10:g.2583545G>C
  • NG_008935.1:g.143555G>C
  • NM_000218.3:c.1032G>CMANE SELECT
  • NM_001406836.1:c.1032G>C
  • NM_001406837.1:c.762G>C
  • NM_001406838.1:c.588G>C
  • NM_181798.2:c.651G>C
  • NP_000209.2:p.Ala344=
  • NP_000209.2:p.Ala344=
  • NP_001393765.1:p.Ala344=
  • NP_001393766.1:p.Ala254=
  • NP_001393767.1:p.Ala196=
  • NP_861463.1:p.Ala217=
  • NP_861463.1:p.Ala217=
  • LRG_287t1:c.1032G>C
  • LRG_287t2:c.651G>C
  • LRG_287:g.143555G>C
  • LRG_287p1:p.Ala344=
  • LRG_287p2:p.Ala217=
  • NC_000011.9:g.2604775G>C
  • NM_000218.2:c.1032G>C
  • NM_181798.1:c.651G>C
  • NR_040711.2:n.925G>C
Links:
dbSNP: rs1800171
NCBI 1000 Genomes Browser:
rs1800171
Molecular consequence:
  • NM_000218.3:c.1032G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406836.1:c.1032G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406837.1:c.762G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406838.1:c.588G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181798.2:c.651G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000234463GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 26, 2013) 		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, SCV000234463.10

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

Description

p.Ala344Ala (GCG>GCC): c.1032 G>C in exon 7 of the KCNQ1 gene (NM_000218.2). The c.1032 G>C mutation in the KCNQ1 gene has been reported to co-segregate with a LQTS phenotype in one family (Murray A et al., 1999). The c.1032 G>C mutation changes the last nucleotide in exon 7 of the KCNQ1 gene, which affects the donor splice site and results in exon skipping (Murray A et al., 1999). Furthermore, a different nucleotide change at the same codon (c.1032 G>A, Ala344Ala) also has been reported to affect the donor splice site, and it has been reported in association with LQTS (Murray A et al., 1999). The c.1032 G>C mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.1032 G>C in the KCNQ1 gene is interpreted as 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: Apr 15, 2023