chr22-50776679-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001130919.3(RABL2B):āc.208A>Cā(p.Ile70Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000571 in 1,610,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001130919.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RABL2B | NM_001130919.3 | c.208A>C | p.Ile70Leu | missense_variant | 4/9 | ENST00000691320.1 | |
RPL23AP82 | NR_026981.1 | n.242-6441T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RABL2B | ENST00000691320.1 | c.208A>C | p.Ile70Leu | missense_variant | 4/9 | NM_001130919.3 | A2 | ||
RPL23AP7 | ENST00000496652.5 | n.380-6441T>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152200Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000243 AC: 6AN: 246414Hom.: 0 AF XY: 0.0000301 AC XY: 4AN XY: 133046
GnomAD4 exome AF: 0.0000610 AC: 89AN: 1458470Hom.: 0 Cov.: 31 AF XY: 0.0000496 AC XY: 36AN XY: 725128
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152200Hom.: 0 Cov.: 30 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at