rs9607468

Variant names:

• chr22-37523239-C-A
• rs9607468

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 0.0539 in 151,998 control chromosomes in the GnomAD database, including 278 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 0.054 (278 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.305

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.073 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: 0.0540 AC: 8202 AN: 151880 Hom.: 276 Cov.: 31

Gnomad AFR AF: 0.0119

Gnomad AMI AF: 0.0340

Gnomad AMR AF: 0.0436

Gnomad ASJ AF: 0.0684

Gnomad EAS AF: 0.0323

Gnomad SAS AF: 0.0370

Gnomad FIN AF: 0.117

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0747

Gnomad OTH AF: 0.0498

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

GnomAD4 genome AF: 0.0539 AC: 8199 AN: 151998 Hom.: 278 Cov.: 31 AF XY: 0.0554 AC XY: 4117 AN XY: 74286

Gnomad4 AFR AF: 0.0118

Gnomad4 AMR AF: 0.0435

Gnomad4 ASJ AF: 0.0684

Gnomad4 EAS AF: 0.0322

Gnomad4 SAS AF: 0.0370

Gnomad4 FIN AF: 0.117

Gnomad4 NFE AF: 0.0747

Gnomad4 OTH AF: 0.0502

Alfa AF: 0.0655 Hom.: 234

Bravo AF: 0.0465

Asia WGS AF: 0.0390 AC: 135 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.6
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9607468; hg19: chr22-37919246;