8-21316149-T-G

Variant names:

• chr8-21316149-T-G
• rs898249

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 0.703 in 152,156 control chromosomes in the GnomAD database, including 39,010 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 0.70 (39010 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.571

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.913 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: 0.702 AC: 106805 AN: 152038 Hom.: 38955 Cov.: 33

Gnomad AFR AF: 0.880

Gnomad AMI AF: 0.693

Gnomad AMR AF: 0.743

Gnomad ASJ AF: 0.650

Gnomad EAS AF: 0.935

Gnomad SAS AF: 0.666

Gnomad FIN AF: 0.586

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.592

Gnomad OTH AF: 0.688

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

GnomAD4 genome AF: 0.703 AC: 106919 AN: 152156 Hom.: 39010 Cov.: 33 AF XY: 0.704 AC XY: 52389 AN XY: 74364

Gnomad4 AFR AF: 0.881

Gnomad4 AMR AF: 0.743

Gnomad4 ASJ AF: 0.650

Gnomad4 EAS AF: 0.935

Gnomad4 SAS AF: 0.667

Gnomad4 FIN AF: 0.586

Gnomad4 NFE AF: 0.592

Gnomad4 OTH AF: 0.686

Alfa AF: 0.619 Hom.: 41722

Bravo AF: 0.726

Asia WGS AF: 0.796 AC: 2765 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.29
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs898249; hg19: chr8-21173660;