rs17882950

Variant names:

• chr22-35378927-C-T
• rs17882950

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 0.0376 in 152,296 control chromosomes in the GnomAD database, including 217 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 0.038 (217 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.485

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.112 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: 0.0376 AC: 5719 AN: 152178 Hom.: 214 Cov.: 32

Gnomad AFR AF: 0.00784

Gnomad AMI AF: 0.0143

Gnomad AMR AF: 0.116

Gnomad ASJ AF: 0.00518

Gnomad EAS AF: 0.00173

Gnomad SAS AF: 0.0153

Gnomad FIN AF: 0.0616

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0408

Gnomad OTH AF: 0.0306

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

GnomAD4 genome AF: 0.0376 AC: 5723 AN: 152296 Hom.: 217 Cov.: 32 AF XY: 0.0394 AC XY: 2934 AN XY: 74474

Gnomad4 AFR AF: 0.00782

Gnomad4 AMR AF: 0.117

Gnomad4 ASJ AF: 0.00518

Gnomad4 EAS AF: 0.00174

Gnomad4 SAS AF: 0.0149

Gnomad4 FIN AF: 0.0616

Gnomad4 NFE AF: 0.0408

Gnomad4 OTH AF: 0.0303

Alfa AF: 0.0396 Hom.: 24

Bravo AF: 0.0396

Asia WGS AF: 0.00982 AC: 34 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.3
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17882950; hg19: chr22-35774920;