rs10808568

Variant names:

• chr8-128251814-A-C
• rs10808568

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.185 in 152,266 control chromosomes in the GnomAD database, including 3,148 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 0.19 (3148 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.64

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.45).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.244 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: 0.185 AC: 28222 AN: 152148 Hom.: 3144 Cov.: 33

Gnomad AFR AF: 0.0594

Gnomad AMI AF: 0.197

Gnomad AMR AF: 0.234

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.138

Gnomad SAS AF: 0.218

Gnomad FIN AF: 0.166

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.247

Gnomad OTH AF: 0.212

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

GnomAD4 genome AF: 0.185 AC: 28230 AN: 152266 Hom.: 3148 Cov.: 33 AF XY: 0.184 AC XY: 13664 AN XY: 74432

Gnomad4 AFR AF: 0.0593

Gnomad4 AMR AF: 0.235

Gnomad4 ASJ AF: 0.323

Gnomad4 EAS AF: 0.138

Gnomad4 SAS AF: 0.218

Gnomad4 FIN AF: 0.166

Gnomad4 NFE AF: 0.247

Gnomad4 OTH AF: 0.212

Alfa AF: 0.206 Hom.: 455

Bravo AF: 0.183

Asia WGS AF: 0.189 AC: 658 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.45
CADD	Benign	17
DANN	Benign	0.89

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10808568; hg19: chr8-129264060;