rs9607469

Variant names:

• chr22-37523260-G-A
• rs9607469

Your query was ambiguous. Multiple possible variants found:

• chr22-37523260-G-A
• chr22-37523260-G-C

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 0.169 in 151,654 control chromosomes in the GnomAD database, including 2,202 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 0.17 (2202 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.511

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 (SAS) allele frequency at 95% confidence interval = 0.231 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: 0.169 AC: 25684 AN: 151536 Hom.: 2207 Cov.: 30

Gnomad AFR AF: 0.162

Gnomad AMI AF: 0.127

Gnomad AMR AF: 0.135

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.244

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.172

Gnomad OTH AF: 0.183

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

GnomAD4 genome AF: 0.169 AC: 25669 AN: 151654 Hom.: 2202 Cov.: 30 AF XY: 0.169 AC XY: 12553 AN XY: 74098

Gnomad4 AFR AF: 0.162

Gnomad4 AMR AF: 0.135

Gnomad4 ASJ AF: 0.194

Gnomad4 EAS AF: 0.203

Gnomad4 SAS AF: 0.243

Gnomad4 FIN AF: 0.173

Gnomad4 NFE AF: 0.172

Gnomad4 OTH AF: 0.181

Alfa AF: 0.168 Hom.: 3501

Bravo AF: 0.163

Asia WGS AF: 0.205 AC: 711 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.4
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9607469; hg19: chr22-37919267;