chr22-50583170-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000380711.3(CHKB-DT):n.145C>T 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 0.462 in 197,042 control chromosomes in the GnomAD database, including 22,669 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000380711.3 non_coding_transcript_exon
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 |
---|---|---|---|---|---|---|---|---|---|---|
CHKB-DT | ENST00000380711.3 | n.145C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | |||||
CHKB-DT | ENST00000648558.1 | n.15C>T | non_coding_transcript_exon_variant | Exon 1 of 4 | ||||||
CHKB-DT | ENST00000656328.1 | n.51C>T | non_coding_transcript_exon_variant | Exon 1 of 2 |
Frequencies
GnomAD3 genomes AF: 0.452 AC: 68655AN: 151818Hom.: 16828 Cov.: 34
GnomAD4 exome AF: 0.497 AC: 22407AN: 45110Hom.: 5841 Cov.: 0 AF XY: 0.496 AC XY: 11655AN XY: 23482
GnomAD4 genome AF: 0.452 AC: 68683AN: 151932Hom.: 16828 Cov.: 34 AF XY: 0.459 AC XY: 34067AN XY: 74266
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at