rs9332448

Variant names:

• chr10-99557320-A-G
• rs9332448

Your query was ambiguous. Multiple possible variants found:

• chr10-99557320-A-G
• chr10-99557320-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.6 in 151,812 control chromosomes in the GnomAD database, including 28,052 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 0.60 (28052 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.168
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.728 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: 0.600 AC: 90983 AN: 151694 Hom.: 28011 Cov.: 30

Gnomad AFR AF: 0.734

Gnomad AMI AF: 0.598

Gnomad AMR AF: 0.617

Gnomad ASJ AF: 0.495

Gnomad EAS AF: 0.540

Gnomad SAS AF: 0.634

Gnomad FIN AF: 0.531

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.534

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.600 AC: 91078 AN: 151812 Hom.: 28052 Cov.: 30 AF XY: 0.600 AC XY: 44540 AN XY: 74208

African (AFR) AF: 0.734 AC: 30372 AN: 41354

American (AMR) AF: 0.617 AC: 9412 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.495 AC: 1719 AN: 3470

East Asian (EAS) AF: 0.540 AC: 2778 AN: 5146

South Asian (SAS) AF: 0.634 AC: 3042 AN: 4798

European-Finnish (FIN) AF: 0.531 AC: 5602 AN: 10552

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.534 AC: 36265 AN: 67924

Other (OTH) AF: 0.566 AC: 1194 AN: 2110

Alfa AF: 0.577 Hom.: 12489

Bravo AF: 0.611

Asia WGS AF: 0.590 AC: 2054 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.9
DANN	Benign	0.62
PhyloP100		-0.17

Splicing

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

Other links and lift over

dbSNP: rs9332448; hg19: chr10-101317077;