rs10808648

Variant names:

• chr8-92381103-A-G
• rs10808648

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 0.253 in 152,196 control chromosomes in the GnomAD database, including 5,901 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 0.25 (5901 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.27

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.543 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: 0.254 AC: 38554 AN: 152078 Hom.: 5906 Cov.: 31

Gnomad AFR AF: 0.102

Gnomad AMI AF: 0.333

Gnomad AMR AF: 0.347

Gnomad ASJ AF: 0.276

Gnomad EAS AF: 0.559

Gnomad SAS AF: 0.436

Gnomad FIN AF: 0.362

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.245

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

GnomAD4 genome AF: 0.253 AC: 38574 AN: 152196 Hom.: 5901 Cov.: 31 AF XY: 0.266 AC XY: 19808 AN XY: 74424

Gnomad4 AFR AF: 0.102

Gnomad4 AMR AF: 0.347

Gnomad4 ASJ AF: 0.276

Gnomad4 EAS AF: 0.560

Gnomad4 SAS AF: 0.436

Gnomad4 FIN AF: 0.362

Gnomad4 NFE AF: 0.270

Gnomad4 OTH AF: 0.248

Alfa AF: 0.273 Hom.: 7890

Bravo AF: 0.242

Asia WGS AF: 0.474 AC: 1647 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	8.3
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10808648; hg19: chr8-93393331;