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NM_000218.3(KCNQ1):c.922-3C>A AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2024
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:
RCV000620301.5

Allele description [Variation Report for NM_000218.3(KCNQ1):c.922-3C>A]

NM_000218.3(KCNQ1):c.922-3C>A

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.922-3C>A
HGVS:
  • NC_000011.10:g.2583432C>A
  • NG_008935.1:g.143442C>A
  • NM_000218.3:c.922-3C>AMANE SELECT
  • NM_001406836.1:c.922-3C>A
  • NM_001406837.1:c.652-3C>A
  • NM_001406838.1:c.478-3C>A
  • NM_181798.2:c.541-3C>A
  • LRG_287t1:c.922-3C>A
  • LRG_287:g.143442C>A
  • NC_000011.9:g.2604662C>A
  • NM_000218.2:c.922-3C>A
Links:
dbSNP: rs794728515
NCBI 1000 Genomes Browser:
rs794728515
Molecular consequence:
  • NM_000218.3:c.922-3C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406836.1:c.922-3C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406837.1:c.652-3C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406838.1:c.478-3C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181798.2:c.541-3C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000737605Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000737605.6

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

Description

The c.922-3C>A intronic variant results from a C to A substitution 3 nucleotides upstream from coding exon 7 in the KCNQ1 gene. This alteration has been reported in individuals with concerns for long QT syndrome (Ambry internal data). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Aug 11, 2024