rs10808648

chr8-92381103-A-G

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;