rs9615320

Variant names:

• chr22-48445115-G-A
• rs9615320

Your query was ambiguous. Multiple possible variants found:

• chr22-48445115-G-A
• chr22-48445115-G-T

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 0.103 in 152,230 control chromosomes in the GnomAD database, including 1,046 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 0.10 (1046 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.747

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.137 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: 0.103 AC: 15726 AN: 152112 Hom.: 1046 Cov.: 33

Gnomad AFR AF: 0.0263

Gnomad AMI AF: 0.102

Gnomad AMR AF: 0.116

Gnomad ASJ AF: 0.0862

Gnomad EAS AF: 0.0464

Gnomad SAS AF: 0.114

Gnomad FIN AF: 0.182

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.139

Gnomad OTH AF: 0.111

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

GnomAD4 genome AF: 0.103 AC: 15717 AN: 152230 Hom.: 1046 Cov.: 33 AF XY: 0.107 AC XY: 7967 AN XY: 74428

Gnomad4 AFR AF: 0.0262

Gnomad4 AMR AF: 0.116

Gnomad4 ASJ AF: 0.0862

Gnomad4 EAS AF: 0.0458

Gnomad4 SAS AF: 0.114

Gnomad4 FIN AF: 0.182

Gnomad4 NFE AF: 0.139

Gnomad4 OTH AF: 0.109

Alfa AF: 0.121 Hom.: 366

Bravo AF: 0.0935

Asia WGS AF: 0.0640 AC: 223 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	0.36
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9615320; hg19: chr22-48840927;