rs6935033
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_152842.1(AHI1-DT):n.399-12795G>A 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 0.51 in 152,056 control chromosomes in the GnomAD database, including 23,353 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
Genomes: 𝑓 0.51 ( 23353 hom., cov: 32)
Consequence
AHI1-DT
NR_152842.1 intron, non_coding_transcript
NR_152842.1 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.934
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.845 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AHI1-DT | NR_152842.1 | n.399-12795G>A | intron_variant, non_coding_transcript_variant | ||||
AHI1-DT | NR_026805.1 | n.285-12795G>A | intron_variant, non_coding_transcript_variant | ||||
AHI1-DT | NR_152844.1 | n.399-12795G>A | intron_variant, non_coding_transcript_variant | ||||
AHI1-DT | NR_152845.1 | n.523-12795G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHI1-DT | ENST00000702072.1 | n.232-12795G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.510 AC: 77413AN: 151938Hom.: 23289 Cov.: 32
GnomAD3 genomes
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151938
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.510 AC: 77533AN: 152056Hom.: 23353 Cov.: 32 AF XY: 0.503 AC XY: 37377AN XY: 74316
GnomAD4 genome
?
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77533
AN:
152056
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32
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37377
AN XY:
74316
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Asia WGS
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1740
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3476
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at