8-77899854-C-T

Variant names:

• chr8-77899854-C-T
• rs10091852

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 0.213 in 151,962 control chromosomes in the GnomAD database, including 4,066 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 0.21 (4066 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.212

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.342 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: 0.213 AC: 32337 AN: 151842 Hom.: 4052 Cov.: 31

Gnomad AFR AF: 0.347

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.190

Gnomad ASJ AF: 0.187

Gnomad EAS AF: 0.113

Gnomad SAS AF: 0.265

Gnomad FIN AF: 0.116

Gnomad MID AF: 0.234

Gnomad NFE AF: 0.157

Gnomad OTH AF: 0.214

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

GnomAD4 genome AF: 0.213 AC: 32381 AN: 151962 Hom.: 4066 Cov.: 31 AF XY: 0.211 AC XY: 15634 AN XY: 74266

Gnomad4 AFR AF: 0.347

Gnomad4 AMR AF: 0.190

Gnomad4 ASJ AF: 0.187

Gnomad4 EAS AF: 0.114

Gnomad4 SAS AF: 0.264

Gnomad4 FIN AF: 0.116

Gnomad4 NFE AF: 0.157

Gnomad4 OTH AF: 0.215

Alfa AF: 0.183 Hom.: 1383

Bravo AF: 0.222

Asia WGS AF: 0.252 AC: 877 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.8
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10091852; hg19: chr8-78812089;