20-49957917-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000422599.1(KRT18P4):n.1173G>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 0.00000929 in 753,176 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
ENST00000422599.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT18P4 | ENST00000422599.1 | n.1173G>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000264 AC: 4AN: 151792Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000499 AC: 3AN: 601384Hom.: 0 Cov.: 5 AF XY: 0.00000306 AC XY: 1AN XY: 327292
GnomAD4 genome ? AF: 0.0000264 AC: 4AN: 151792Hom.: 0 Cov.: 30 AF XY: 0.0000270 AC XY: 2AN XY: 74082
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at