rs4896180
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000702072.1(AHI1-DT):n.482-21154T>C 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 0.0745 in 152,230 control chromosomes in the GnomAD database, including 687 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 | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHI1-DT | ENST00000702072.1 | n.482-21154T>C | intron_variant, non_coding_transcript_variant | |||||||
AHI1-DT | ENST00000655302.1 | n.669-21154T>C | intron_variant, non_coding_transcript_variant | |||||||
AHI1-DT | ENST00000685995.1 | n.821+11916T>C | intron_variant, non_coding_transcript_variant | |||||||
AHI1-DT | ENST00000690403.1 | n.508-21154T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0744 AC: 11317AN: 152112Hom.: 685 Cov.: 32
GnomAD4 genome AF: 0.0745 AC: 11342AN: 152230Hom.: 687 Cov.: 32 AF XY: 0.0719 AC XY: 5353AN XY: 74426
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at