rs75418532
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000582621.6(CD226):c.46+30A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00488 in 1,446,224 control chromosomes in the GnomAD database, including 261 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 0.024 ( 144 hom., cov: 32)
Exomes 𝑓: 0.0026 ( 117 hom. )
Consequence
CD226
ENST00000582621.6 intron
ENST00000582621.6 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.981
Genes affected
CD226 (HGNC:16961): (CD226 molecule) This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
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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=-0.82).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0807 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD226 | NM_001303618.2 | c.46+30A>G | intron_variant | ENST00000582621.6 | NP_001290547.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD226 | ENST00000582621.6 | c.46+30A>G | intron_variant | 1 | NM_001303618.2 | ENSP00000461947 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0242 AC: 3675AN: 152114Hom.: 143 Cov.: 32
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GnomAD3 exomes AF: 0.00719 AC: 1531AN: 212836Hom.: 57 AF XY: 0.00525 AC XY: 609AN XY: 115940
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GnomAD4 exome AF: 0.00260 AC: 3366AN: 1293992Hom.: 117 Cov.: 18 AF XY: 0.00238 AC XY: 1552AN XY: 650828
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GnomAD4 genome AF: 0.0243 AC: 3693AN: 152232Hom.: 144 Cov.: 32 AF XY: 0.0231 AC XY: 1723AN XY: 74442
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at