rs9693444

Variant names:

• chr8-29652100-A-C
• rs9693444

Your query was ambiguous. Multiple possible variants found:

• chr8-29652100-A-C
• chr8-29652100-A-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 0.664 in 151,988 control chromosomes in the GnomAD database, including 33,699 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 0.66 (33699 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.762 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: 0.664 AC: 100788 AN: 151868 Hom.: 33685 Cov.: 31

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.691

Gnomad AMR AF: 0.694

Gnomad ASJ AF: 0.639

Gnomad EAS AF: 0.694

Gnomad SAS AF: 0.784

Gnomad FIN AF: 0.647

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.676

Gnomad OTH AF: 0.650

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

GnomAD4 genome AF: 0.664 AC: 100853 AN: 151988 Hom.: 33699 Cov.: 31 AF XY: 0.666 AC XY: 49481 AN XY: 74274

Gnomad4 AFR AF: 0.621

Gnomad4 AMR AF: 0.693

Gnomad4 ASJ AF: 0.639

Gnomad4 EAS AF: 0.695

Gnomad4 SAS AF: 0.783

Gnomad4 FIN AF: 0.647

Gnomad4 NFE AF: 0.676

Gnomad4 OTH AF: 0.651

Alfa AF: 0.666 Hom.: 17366

Bravo AF: 0.659

Asia WGS AF: 0.728 AC: 2534 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	0.022
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9693444; hg19: chr8-29509616;