8-123819594-T-C

Variant names:

• chr8-123819594-T-C
• rs10481151

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 0.217 in 151,982 control chromosomes in the GnomAD database, including 5,803 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 0.22 (5803 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.965
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.462 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: 0.217 AC: 32933 AN: 151864 Hom.: 5773 Cov.: 31

Gnomad AFR AF: 0.467

Gnomad AMI AF: 0.116

Gnomad AMR AF: 0.252

Gnomad ASJ AF: 0.0516

Gnomad EAS AF: 0.314

Gnomad SAS AF: 0.206

Gnomad FIN AF: 0.0701

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0844

Gnomad OTH AF: 0.182

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

GnomAD4 genome AF: 0.217 AC: 33027 AN: 151982 Hom.: 5803 Cov.: 31 AF XY: 0.218 AC XY: 16221 AN XY: 74310

African (AFR) AF: 0.468 AC: 19360 AN: 41396

American (AMR) AF: 0.253 AC: 3863 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0516 AC: 179 AN: 3466

East Asian (EAS) AF: 0.315 AC: 1625 AN: 5162

South Asian (SAS) AF: 0.205 AC: 988 AN: 4814

European-Finnish (FIN) AF: 0.0701 AC: 743 AN: 10594

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.0844 AC: 5739 AN: 67970

Other (OTH) AF: 0.184 AC: 387 AN: 2106

Alfa AF: 0.126 Hom.: 8488

Bravo AF: 0.240

Asia WGS AF: 0.285 AC: 988 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.8
DANN	Benign	0.78
PhyloP100		-0.96

Splicing

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

Other links and lift over

dbSNP: rs10481151; hg19: chr8-124831834;