rs9517723
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000646895.1(ENSG00000285448):n.278A>G 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 0.654 in 152,160 control chromosomes in the GnomAD database, including 33,588 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
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000646895.1 | n.278A>G | non_coding_transcript_exon_variant | 1/3 |
Frequencies
GnomAD3 genomes ? AF: 0.654 AC: 99405AN: 152020Hom.: 33565 Cov.: 33
GnomAD4 exome AF: 0.864 AC: 19AN: 22Hom.: 9 Cov.: 0 AF XY: 0.917 AC XY: 11AN XY: 12
GnomAD4 genome ? AF: 0.654 AC: 99464AN: 152138Hom.: 33579 Cov.: 33 AF XY: 0.654 AC XY: 48647AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at