rs16928120
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000413483.1(CD81-AS1):n.697G>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 152,044 control chromosomes in the GnomAD database, including 1,795 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 0.13 ( 1795 hom., cov: 32)
Exomes 𝑓: 0.075 ( 0 hom. )
Consequence
CD81-AS1
ENST00000413483.1 non_coding_transcript_exon
ENST00000413483.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.659
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=-0.8).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.245 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD81-AS1 | NR_108080.1 | n.619+51G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD81-AS1 | ENST00000413483.1 | n.697G>C | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
CD81-AS1 | ENST00000427151.1 | n.616+51G>C | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.131 AC: 19846AN: 151888Hom.: 1790 Cov.: 32
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GnomAD4 exome AF: 0.0750 AC: 3AN: 40Hom.: 0 Cov.: 0 AF XY: 0.136 AC XY: 3AN XY: 22
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GnomAD4 genome ? AF: 0.131 AC: 19892AN: 152004Hom.: 1795 Cov.: 32 AF XY: 0.128 AC XY: 9539AN XY: 74316
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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