rs75418532

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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.981
Variant links:
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]

Genome browser will be placed here

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
CD226NM_001303618.2 linkuse as main transcriptc.46+30A>G intron_variant ENST00000582621.6 NP_001290547.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
CD226ENST00000582621.6 linkuse as main transcriptc.46+30A>G intron_variant 1 NM_001303618.2 ENSP00000461947 P1

Frequencies

GnomAD3 genomes
AF:
0.0242
AC:
3675
AN:
152114
Hom.:
143
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0828
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0101
Gnomad ASJ
AF:
0.00202
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.000207
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.0190
Gnomad NFE
AF:
0.000603
Gnomad OTH
AF:
0.0182
GnomAD3 exomes
AF:
0.00719
AC:
1531
AN:
212836
Hom.:
57
AF XY:
0.00525
AC XY:
609
AN XY:
115940
show subpopulations
Gnomad AFR exome
AF:
0.0837
Gnomad AMR exome
AF:
0.00564
Gnomad ASJ exome
AF:
0.00304
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.000129
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.000545
Gnomad OTH exome
AF:
0.00690
GnomAD4 exome
AF:
0.00260
AC:
3366
AN:
1293992
Hom.:
117
Cov.:
18
AF XY:
0.00238
AC XY:
1552
AN XY:
650828
show subpopulations
Gnomad4 AFR exome
AF:
0.0841
Gnomad4 AMR exome
AF:
0.00650
Gnomad4 ASJ exome
AF:
0.00272
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000172
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.000365
Gnomad4 OTH exome
AF:
0.00577
GnomAD4 genome
AF:
0.0243
AC:
3693
AN:
152232
Hom.:
144
Cov.:
32
AF XY:
0.0231
AC XY:
1723
AN XY:
74442
show subpopulations
Gnomad4 AFR
AF:
0.0830
Gnomad4 AMR
AF:
0.0101
Gnomad4 ASJ
AF:
0.00202
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.000207
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000603
Gnomad4 OTH
AF:
0.0180
Alfa
AF:
0.0144
Hom.:
11
Bravo
AF:
0.0276
Asia WGS
AF:
0.00346
AC:
12
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.82
CADD
Benign
5.8
DANN
Benign
0.68

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.030
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs75418532; hg19: chr18-67614567; API