rs9615812

Variant names:

• chr22-48221836-G-A
• rs9615812

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 0.0928 in 152,158 control chromosomes in the GnomAD database, including 726 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 0.093 (726 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.104 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: 0.0929 AC: 14123 AN: 152040 Hom.: 728 Cov.: 33

Gnomad AFR AF: 0.0965

Gnomad AMI AF: 0.0515

Gnomad AMR AF: 0.0544

Gnomad ASJ AF: 0.0615

Gnomad EAS AF: 0.000385

Gnomad SAS AF: 0.0247

Gnomad FIN AF: 0.144

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.106

Gnomad OTH AF: 0.0895

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

GnomAD4 genome AF: 0.0928 AC: 14118 AN: 152158 Hom.: 726 Cov.: 33 AF XY: 0.0893 AC XY: 6642 AN XY: 74380

Gnomad4 AFR AF: 0.0963

Gnomad4 AMR AF: 0.0544

Gnomad4 ASJ AF: 0.0615

Gnomad4 EAS AF: 0.000386

Gnomad4 SAS AF: 0.0249

Gnomad4 FIN AF: 0.144

Gnomad4 NFE AF: 0.106

Gnomad4 OTH AF: 0.0881

Alfa AF: 0.0993 Hom.: 130

Bravo AF: 0.0873

Asia WGS AF: 0.0170 AC: 58 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.088
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9615812; hg19: chr22-48617648;