8-21494250-T-G

Variant names:

• chr8-21494250-T-G
• rs13263328

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.675 in 151,810 control chromosomes in the GnomAD database, including 35,057 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 0.67 (35057 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.793 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.674 AC: 102300 AN: 151692 Hom.: 34993 Cov.: 29

Gnomad AFR AF: 0.800

Gnomad AMI AF: 0.523

Gnomad AMR AF: 0.647

Gnomad ASJ AF: 0.672

Gnomad EAS AF: 0.756

Gnomad SAS AF: 0.591

Gnomad FIN AF: 0.577

Gnomad MID AF: 0.620

Gnomad NFE AF: 0.621

Gnomad OTH AF: 0.673

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.675 AC: 102424 AN: 151810 Hom.: 35057 Cov.: 29 AF XY: 0.672 AC XY: 49817 AN XY: 74164

African (AFR) AF: 0.800 AC: 33142 AN: 41416

American (AMR) AF: 0.648 AC: 9880 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.672 AC: 2326 AN: 3462

East Asian (EAS) AF: 0.756 AC: 3895 AN: 5152

South Asian (SAS) AF: 0.591 AC: 2835 AN: 4796

European-Finnish (FIN) AF: 0.577 AC: 6065 AN: 10510

Middle Eastern (MID) AF: 0.626 AC: 184 AN: 294

European-Non Finnish (NFE) AF: 0.621 AC: 42198 AN: 67906

Other (OTH) AF: 0.676 AC: 1423 AN: 2106

Alfa AF: 0.609 Hom.: 5480

Bravo AF: 0.688

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.13
DANN	Benign	0.44
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs13263328; hg19: chr8-21351761;