rs3769686
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_006139.4(CD28):c.534+1762A>G variant causes a intron change. The variant allele was found at a frequency of 0.00955 in 152,320 control chromosomes in the GnomAD database, including 11 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 0.0096 ( 11 hom., cov: 32)
Consequence
CD28
NM_006139.4 intron
NM_006139.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.59
Genes affected
CD28 (HGNC:1653): (CD28 molecule) The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
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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=-0.56).
BS1
?
Variant frequency is greater than expected in population eas. gnomad4 allele frequency = 0.00955 (1455/152320) while in subpopulation EAS AF= 0.0405 (210/5182). AF 95% confidence interval is 0.036. There are 11 homozygotes in gnomad4. There are 758 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 10 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD28 | NM_006139.4 | c.534+1762A>G | intron_variant | ENST00000324106.9 | |||
CD28 | NM_001243077.2 | c.243+1762A>G | intron_variant | ||||
CD28 | NM_001243078.2 | c.177+1762A>G | intron_variant | ||||
CD28 | NM_001410981.1 | c.576+1762A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD28 | ENST00000324106.9 | c.534+1762A>G | intron_variant | 1 | NM_006139.4 | P1 | |||
CD28 | ENST00000374481.7 | c.177+1762A>G | intron_variant | 1 | |||||
CD28 | ENST00000458610.6 | c.576+1762A>G | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00953 AC: 1450AN: 152202Hom.: 10 Cov.: 32
GnomAD3 genomes
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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: 0.00955 AC: 1455AN: 152320Hom.: 11 Cov.: 32 AF XY: 0.0102 AC XY: 758AN XY: 74482
GnomAD4 genome
?
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1455
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152320
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32
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758
AN XY:
74482
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60
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at