rs10521746
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000417266.1(RPL7AP72):n.609G>A 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 0.0792 in 111,451 control chromosomes in the GnomAD database, including 368 homozygotes. There are 2,728 hemizygotes in GnomAD. 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
ENST00000417266.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 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 |
---|---|---|---|---|---|---|---|---|---|
RPL7AP72 | ENST00000417266.1 | n.609G>A | non_coding_transcript_exon_variant | 1/1 | |||||
ENST00000660383.1 | n.1168+9608C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0789 AC: 8789AN: 111325Hom.: 362 Cov.: 23 AF XY: 0.0808 AC XY: 2710AN XY: 33527
GnomAD4 exome AF: 0.0649 AC: 5AN: 77Hom.: 0 Cov.: 0 AF XY: 0.0645 AC XY: 2AN XY: 31
GnomAD4 genome ? AF: 0.0792 AC: 8819AN: 111374Hom.: 368 Cov.: 23 AF XY: 0.0812 AC XY: 2726AN XY: 33586
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at