8-128251814-A-C

Variant names:

• chr8-128251814-A-C
• rs10808568

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 11 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	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

African (AFR) AF: 0.0593 AC: 2464 AN: 41572

American (AMR) AF: 0.235 AC: 3585 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1120 AN: 3472

East Asian (EAS) AF: 0.138 AC: 714 AN: 5188

South Asian (SAS) AF: 0.218 AC: 1050 AN: 4822

European-Finnish (FIN) AF: 0.166 AC: 1760 AN: 10600

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.247 AC: 16823 AN: 68006

Other (OTH) AF: 0.212 AC: 448 AN: 2116

Alfa AF: 0.201 Hom.: 459

Bravo AF: 0.183

Asia WGS AF: 0.189 AC: 658 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.45
CADD	Benign	17
DANN	Benign	0.89
PhyloP100		1.6

Splicing

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

Other links and lift over

dbSNP: rs10808568; hg19: chr8-129264060;