rs300622

Variant names:

• chr9-32793468-C-A
• rs300622

Your query was ambiguous. Multiple possible variants found:

• chr9-32793468-C-A
• chr9-32793468-C-G
• chr9-32793468-C-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 0.792 in 152,182 control chromosomes in the GnomAD database, including 48,365 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 0.79 (48365 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.282

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.793 AC: 120516 AN: 152064 Hom.: 48333 Cov.: 33

Gnomad AFR AF: 0.661

Gnomad AMI AF: 0.756

Gnomad AMR AF: 0.822

Gnomad ASJ AF: 0.892

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.885

Gnomad FIN AF: 0.860

Gnomad MID AF: 0.860

Gnomad NFE AF: 0.829

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.792 AC: 120596 AN: 152182 Hom.: 48365 Cov.: 33 AF XY: 0.797 AC XY: 59343 AN XY: 74418

Gnomad4 AFR AF: 0.661

Gnomad4 AMR AF: 0.822

Gnomad4 ASJ AF: 0.892

Gnomad4 EAS AF: 0.991

Gnomad4 SAS AF: 0.885

Gnomad4 FIN AF: 0.860

Gnomad4 NFE AF: 0.829

Gnomad4 OTH AF: 0.801

Alfa AF: 0.817 Hom.: 24800

Bravo AF: 0.785

Asia WGS AF: 0.918 AC: 3192 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.2
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs300622; hg19: chr9-32793466;