rs8033165

Variant names:

• chr15-28760947-C-T
• rs8033165

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.313 in 150,274 control chromosomes in the GnomAD database, including 8,695 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 0.31 (8695 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.23

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.35).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.436 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: 0.313 AC: 46962 AN: 150158 Hom.: 8694 Cov.: 28

Gnomad AFR AF: 0.164

Gnomad AMI AF: 0.454

Gnomad AMR AF: 0.193

Gnomad ASJ AF: 0.266

Gnomad EAS AF: 0.00118

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.496

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.440

Gnomad OTH AF: 0.270

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

GnomAD4 genome AF: 0.313 AC: 46966 AN: 150274 Hom.: 8695 Cov.: 28 AF XY: 0.306 AC XY: 22464 AN XY: 73330

Gnomad4 AFR AF: 0.164

Gnomad4 AMR AF: 0.193

Gnomad4 ASJ AF: 0.266

Gnomad4 EAS AF: 0.00118

Gnomad4 SAS AF: 0.123

Gnomad4 FIN AF: 0.496

Gnomad4 NFE AF: 0.440

Gnomad4 OTH AF: 0.269

Alfa AF: 0.393 Hom.: 5282

Bravo AF: 0.287

Asia WGS AF: 0.100 AC: 351 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.35
CADD	Benign	23
DANN	Benign	0.87

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8033165; hg19: chr15-29006093;