rs1020075
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000593341.1(ZNF91):n.551+1015A>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 0.188 in 152,156 control chromosomes in the GnomAD database, including 2,925 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 0.19 ( 2925 hom., cov: 33)
Consequence
ZNF91
ENST00000593341.1 intron, non_coding_transcript
ENST00000593341.1 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0150
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=-0.67).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.208 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF91 | XM_024451693.2 | c.254-15150A>G | intron_variant | ||||
ZNF91 | XR_001753754.3 | n.4666+1015A>G | intron_variant, non_coding_transcript_variant | ||||
ZNF91 | XR_007066978.1 | n.4666+1015A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF91 | ENST00000593341.1 | n.551+1015A>G | intron_variant, non_coding_transcript_variant | 1 | |||||
ZNF91 | ENST00000599743.5 | c.253+16327A>G | intron_variant | 3 | |||||
ZNF91 | ENST00000596528.1 | n.116+1315A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.188 AC: 28642AN: 152038Hom.: 2920 Cov.: 33
GnomAD3 genomes
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28642
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152038
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.188 AC: 28675AN: 152156Hom.: 2925 Cov.: 33 AF XY: 0.182 AC XY: 13533AN XY: 74386
GnomAD4 genome
?
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AC:
28675
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152156
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33
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13533
AN XY:
74386
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318
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at