8-20501107-C-T

Variant names:

• chr8-20501107-C-T
• rs9785133

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.207 in 151,846 control chromosomes in the GnomAD database, including 4,569 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 (4569 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.193
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.398 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: 0.207 AC: 31428 AN: 151728 Hom.: 4556 Cov.: 32

Gnomad AFR AF: 0.403

Gnomad AMI AF: 0.123

Gnomad AMR AF: 0.245

Gnomad ASJ AF: 0.149

Gnomad EAS AF: 0.129

Gnomad SAS AF: 0.208

Gnomad FIN AF: 0.0460

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.115

Gnomad OTH AF: 0.188

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

GnomAD4 genome AF: 0.207 AC: 31507 AN: 151846 Hom.: 4569 Cov.: 32 AF XY: 0.202 AC XY: 15010 AN XY: 74210

African (AFR) AF: 0.403 AC: 16679 AN: 41338

American (AMR) AF: 0.245 AC: 3732 AN: 15234

Ashkenazi Jewish (ASJ) AF: 0.149 AC: 515 AN: 3468

East Asian (EAS) AF: 0.128 AC: 662 AN: 5152

South Asian (SAS) AF: 0.209 AC: 1005 AN: 4812

European-Finnish (FIN) AF: 0.0460 AC: 486 AN: 10554

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.115 AC: 7838 AN: 67974

Other (OTH) AF: 0.192 AC: 405 AN: 2110

Alfa AF: 0.133 Hom.: 961

Bravo AF: 0.233

Asia WGS AF: 0.212 AC: 736 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.0
DANN	Benign	0.56
PhyloP100		-0.19

Splicing

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

Other links and lift over

dbSNP: rs9785133; hg19: chr8-20358618;