rs1379805
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000578831.1(ENSG00000265943):n.287+6173A>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000125 in 152,048 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBBP8 | XM_006722519.3 | c.-220+283T>A | intron_variant | ||||
RBBP8 | XM_006722520.3 | c.-154+283T>A | intron_variant | ||||
RBBP8 | XM_011526132.3 | c.-165+283T>A | intron_variant | ||||
RBBP8 | XM_047437728.1 | c.-325+283T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000578831.1 | n.287+6173A>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152048Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152048Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at