rs952194

Variant names:

• chr8-54127466-C-T
• rs952194

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 0.218 in 152,102 control chromosomes in the GnomAD database, including 4,846 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 (4846 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.918
• Publications: 5 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 (EAS) allele frequency at 95% confidence interval = 0.722 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: 0.218 AC: 33073 AN: 151984 Hom.: 4835 Cov.: 32

Gnomad AFR AF: 0.227

Gnomad AMI AF: 0.303

Gnomad AMR AF: 0.266

Gnomad ASJ AF: 0.212

Gnomad EAS AF: 0.742

Gnomad SAS AF: 0.467

Gnomad FIN AF: 0.259

Gnomad MID AF: 0.209

Gnomad NFE AF: 0.136

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.218 AC: 33116 AN: 152102 Hom.: 4846 Cov.: 32 AF XY: 0.231 AC XY: 17185 AN XY: 74350

African (AFR) AF: 0.228 AC: 9438 AN: 41474

American (AMR) AF: 0.267 AC: 4070 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.212 AC: 737 AN: 3472

East Asian (EAS) AF: 0.742 AC: 3841 AN: 5178

South Asian (SAS) AF: 0.467 AC: 2252 AN: 4826

European-Finnish (FIN) AF: 0.259 AC: 2731 AN: 10558

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.136 AC: 9232 AN: 68010

Other (OTH) AF: 0.229 AC: 482 AN: 2108

Alfa AF: 0.159 Hom.: 2806

Bravo AF: 0.218

Asia WGS AF: 0.572 AC: 1989 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	1.1
DANN	Benign	0.94
PhyloP100		-0.92

Splicing

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

Other links and lift over

dbSNP: rs952194; hg19: chr8-55040026;