rs6848982
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001358451.3(ABHD18):c.*2245G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.157 in 152,082 control chromosomes in the GnomAD database, including 2,400 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 0.16 ( 2400 hom., cov: 32)
Failed GnomAD Quality Control
Consequence
ABHD18
NM_001358451.3 3_prime_UTR
NM_001358451.3 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.332
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=-0.78).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.267 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABHD18 | NM_001358451.3 | c.*2245G>A | 3_prime_UTR_variant | 13/13 | ENST00000645843.2 | NP_001345380.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABHD18 | ENST00000645843.2 | c.*2245G>A | 3_prime_UTR_variant | 13/13 | NM_001358451.3 | ENSP00000496010 | P1 | |||
ABHD18 | ENST00000388795.10 | c.*3398G>A | 3_prime_UTR_variant, NMD_transcript_variant | 13/13 | 5 | ENSP00000373447 |
Frequencies
GnomAD3 genomes AF: 0.157 AC: 23899AN: 151964Hom.: 2399 Cov.: 32
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GnomAD4 exome Data not reliable, filtered out with message: AC0AC: 0AN: 0Hom.: 0 Cov.: 0AC XY: 0AN XY: 0
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GnomAD4 genome AF: 0.157 AC: 23911AN: 152082Hom.: 2400 Cov.: 32 AF XY: 0.160 AC XY: 11898AN XY: 74320
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at