rs9399158
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000702072.1(AHI1-DT):n.481+37936C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.262 in 152,008 control chromosomes in the GnomAD database, including 5,871 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
ENST00000702072.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|---|---|
AHI1-DT | ENST00000702072.1 | n.481+37936C>T | intron_variant, non_coding_transcript_variant | ||||||
AHI1-DT | ENST00000655302.1 | n.668+11726C>T | intron_variant, non_coding_transcript_variant | ||||||
AHI1-DT | ENST00000685995.1 | n.781+37936C>T | intron_variant, non_coding_transcript_variant | ||||||
AHI1-DT | ENST00000690403.1 | n.507+37936C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.262 AC: 39737AN: 151890Hom.: 5857 Cov.: 32
GnomAD4 genome ? AF: 0.262 AC: 39778AN: 152008Hom.: 5871 Cov.: 32 AF XY: 0.259 AC XY: 19220AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at