rs527616
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000579964.6(AQP4-AS1):n.92+101626C>G 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 0.708 in 152,120 control chromosomes in the GnomAD database, including 39,248 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
ENST00000579964.6 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQP4-AS1 | ENST00000579964.6 | n.92+101626C>G | intron_variant, non_coding_transcript_variant | 5 | |||||
AQP4-AS1 | ENST00000582605.5 | n.305+47421C>G | intron_variant, non_coding_transcript_variant | 4 | |||||
AQP4-AS1 | ENST00000628174.2 | n.707-6756C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.708 AC: 107558AN: 152002Hom.: 39184 Cov.: 32
GnomAD4 genome ? AF: 0.708 AC: 107684AN: 152120Hom.: 39248 Cov.: 32 AF XY: 0.706 AC XY: 52460AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at