chr19-7665708-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007067117.1(RPS27AP19):n.30G>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 0.0663 in 279,458 control chromosomes in the GnomAD database, including 937 homozygotes. 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
XR_007067117.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPS27AP19 | XR_007067117.1 | n.30G>A | non_coding_transcript_exon_variant | Exon 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPS27AP19 | ENST00000597285.1 | n.-9G>A | upstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes AF: 0.0892 AC: 13556AN: 152006Hom.: 800 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.0391 AC: 4973AN: 127334Hom.: 134 Cov.: 0 AF XY: 0.0391 AC XY: 3000AN XY: 76694 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
Age Distribution
GnomAD4 genome AF: 0.0891 AC: 13561AN: 152124Hom.: 803 Cov.: 32 AF XY: 0.0896 AC XY: 6660AN XY: 74370 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at