rs1181390
Positions:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006139.4(CD28):c.52+1206G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00217 in 152,104 control chromosomes in the GnomAD database, including 3 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 0.0022 ( 3 hom., cov: 32)
Consequence
CD28
NM_006139.4 intron
NM_006139.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.64
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 -8 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BS2
?
High Homozygotes in GnomAd4 at 3 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD28 | NM_006139.4 | c.52+1206G>C | intron_variant | ENST00000324106.9 | |||
CD28 | NM_001243077.2 | c.52+1206G>C | intron_variant | ||||
CD28 | NM_001243078.2 | c.52+1206G>C | intron_variant | ||||
CD28 | NM_001410981.1 | c.94+1337G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD28 | ENST00000324106.9 | c.52+1206G>C | intron_variant | 1 | NM_006139.4 | P1 | |||
CD28 | ENST00000374481.7 | c.52+1206G>C | intron_variant | 1 | |||||
CD28 | ENST00000458610.6 | c.94+1337G>C | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00214 AC: 326AN: 151986Hom.: 3 Cov.: 32
GnomAD3 genomes
?
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326
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151986
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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: 0.00217 AC: 330AN: 152104Hom.: 3 Cov.: 32 AF XY: 0.00210 AC XY: 156AN XY: 74352
GnomAD4 genome
?
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330
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152104
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32
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156
AN XY:
74352
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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
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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