rs207553
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000661152.1(ENSG00000287612):n.54A>G 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 0.000131 in 152,244 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
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 |
---|---|---|---|---|---|---|---|
LOC105372750 | XR_937612.2 | n.254+1567A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105372750 | XR_937613.2 | n.254+1567A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000661152.1 | n.54A>G | non_coding_transcript_exon_variant | 1/4 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152126Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at