chr9-128111149-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000418747.2(SLC25A25-AS1):n.3823T>C 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 0.704 in 152,072 control chromosomes in the GnomAD database, including 40,200 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
ENST00000418747.2 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 |
---|---|---|---|---|---|---|---|
SLC25A25-AS1 | NR_033374.1 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A25-AS1 | ENST00000418747.2 | n.3823T>C | non_coding_transcript_exon_variant | 5/5 | 1 |
Frequencies
GnomAD3 genomes AF: 0.705 AC: 107098AN: 151948Hom.: 40196 Cov.: 32
GnomAD4 exome AF: 0.833 AC: 5AN: 6Hom.: 2 Cov.: 0 AF XY: 0.833 AC XY: 5AN XY: 6
GnomAD4 genome AF: 0.704 AC: 107113AN: 152066Hom.: 40198 Cov.: 32 AF XY: 0.704 AC XY: 52328AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at