rs952148

Variant names:

• chr8-20234008-G-A
• rs952148

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 0.111 in 152,264 control chromosomes in the GnomAD database, including 1,055 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 0.11 (1055 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.935

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.169 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: 0.111 AC: 16850 AN: 152146 Hom.: 1055 Cov.: 32

Gnomad AFR AF: 0.0788

Gnomad AMI AF: 0.0614

Gnomad AMR AF: 0.174

Gnomad ASJ AF: 0.0556

Gnomad EAS AF: 0.122

Gnomad SAS AF: 0.151

Gnomad FIN AF: 0.0847

Gnomad MID AF: 0.0823

Gnomad NFE AF: 0.120

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.111 AC: 16846 AN: 152264 Hom.: 1055 Cov.: 32 AF XY: 0.111 AC XY: 8259 AN XY: 74454

Gnomad4 AFR AF: 0.0787

Gnomad4 AMR AF: 0.174

Gnomad4 ASJ AF: 0.0556

Gnomad4 EAS AF: 0.122

Gnomad4 SAS AF: 0.149

Gnomad4 FIN AF: 0.0847

Gnomad4 NFE AF: 0.120

Gnomad4 OTH AF: 0.108

Alfa AF: 0.115 Hom.: 1403

Bravo AF: 0.113

Asia WGS AF: 0.137 AC: 478 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	0.92
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs952148; hg19: chr8-20091519;