rs8234
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000218.3(KCNQ1):c.*875A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.393 in 453,932 control chromosomes in the GnomAD database, including 38,610 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000218.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNQ1 | ENST00000155840.12 | c.*875A>G | 3_prime_UTR_variant | Exon 16 of 16 | 1 | NM_000218.3 | ENSP00000155840.2 | |||
KCNQ1 | ENST00000335475.6 | c.*875A>G | 3_prime_UTR_variant | Exon 16 of 16 | 1 | ENSP00000334497.5 | ||||
KCNQ1 | ENST00000496887.7 | c.*875A>G | 3_prime_UTR_variant | Exon 16 of 16 | 5 | ENSP00000434560.2 | ||||
KCNQ1-AS1 | ENST00000440887.2 | n.777-8436T>C | intron_variant | Intron 2 of 2 | 5 |
Frequencies
GnomAD3 genomes AF: 0.391 AC: 59445AN: 152012Hom.: 12562 Cov.: 34
GnomAD3 exomes AF: 0.446 AC: 58181AN: 130514Hom.: 14737 AF XY: 0.441 AC XY: 31401AN XY: 71234
GnomAD4 exome AF: 0.395 AC: 119100AN: 301802Hom.: 26039 Cov.: 0 AF XY: 0.400 AC XY: 68770AN XY: 171994
GnomAD4 genome AF: 0.391 AC: 59495AN: 152130Hom.: 12571 Cov.: 34 AF XY: 0.399 AC XY: 29669AN XY: 74360
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is associated with the following publications: (PMID: 22199116, 27531917) -
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Long QT syndrome 1 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Atrial fibrillation, familial, 3 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Jervell and Lange-Nielsen syndrome 1 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Short QT syndrome type 2 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Congenital long QT syndrome Benign:1
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Long QT syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at