chr11-2583556-C-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000218.3(KCNQ1):c.1032+11C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000209 in 1,437,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000218.3 intron
Scores
Clinical Significance
Conservation
Publications
- long QT syndromeInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- long QT syndrome 1Inheritance: AD, AR Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P
- Jervell and Lange-Nielsen syndromeInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- Jervell and Lange-Nielsen syndrome 1Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), G2P
- atrial fibrillation, familial, 3Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)
- short QT syndromeInheritance: AD Classification: STRONG, SUPPORTIVE Submitted by: ClinGen, Orphanet
- short QT syndrome type 2Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P
- familial atrial fibrillationInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- Jervell and Lange-Nielsen syndromeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
- hypertrophic cardiomyopathyInheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1437080Hom.: 0 Cov.: 27 AF XY: 0.00000140 AC XY: 1AN XY: 716580 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
Age Distribution
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at