8-21494250-T-G

Variant names:

• chr8-21494250-T-G
• rs13263328

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.800

Gnomad4 AMR AF: 0.648

Gnomad4 ASJ AF: 0.672

Gnomad4 EAS AF: 0.756

Gnomad4 SAS AF: 0.591

Gnomad4 FIN AF: 0.577

Gnomad4 NFE AF: 0.621

Gnomad4 OTH AF: 0.676

Alfa AF: 0.604 Hom.: 5233

Bravo AF: 0.688

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13263328; hg19: chr8-21351761;