rs1557765
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000568280.1(ENSG00000260196):n.1444T>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.698 in 152,212 control chromosomes in the GnomAD database, including 38,474 homozygotes. 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000568280.1 | n.1444T>C | non_coding_transcript_exon_variant | 1/1 | |||||||
KCNJ11 | ENST00000682764.1 | c.*50+4777A>G | intron_variant | ENSP00000506780 |
Frequencies
GnomAD3 genomes AF: 0.698 AC: 106151AN: 152028Hom.: 38411 Cov.: 33
GnomAD4 exome AF: 0.652 AC: 43AN: 66Hom.: 15 Cov.: 0 AF XY: 0.620 AC XY: 31AN XY: 50
GnomAD4 genome AF: 0.698 AC: 106260AN: 152146Hom.: 38459 Cov.: 33 AF XY: 0.693 AC XY: 51562AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at