rs9568281

Variant names:

• chr13-49611068-A-G
• rs9568281

Your query was ambiguous. Multiple possible variants found:

• chr13-49611068-A-G
• chr13-49611068-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 0.0792 in 152,206 control chromosomes in the GnomAD database, including 674 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 0.079 (674 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.347

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.215 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: 0.0793 AC: 12055 AN: 152088 Hom.: 675 Cov.: 32

Gnomad AFR AF: 0.0334

Gnomad AMI AF: 0.136

Gnomad AMR AF: 0.0682

Gnomad ASJ AF: 0.120

Gnomad EAS AF: 0.219

Gnomad SAS AF: 0.226

Gnomad FIN AF: 0.125

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0787

Gnomad OTH AF: 0.0799

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

GnomAD4 genome AF: 0.0792 AC: 12054 AN: 152206 Hom.: 674 Cov.: 32 AF XY: 0.0849 AC XY: 6318 AN XY: 74416

Gnomad4 AFR AF: 0.0334

Gnomad4 AMR AF: 0.0681

Gnomad4 ASJ AF: 0.120

Gnomad4 EAS AF: 0.219

Gnomad4 SAS AF: 0.226

Gnomad4 FIN AF: 0.125

Gnomad4 NFE AF: 0.0787

Gnomad4 OTH AF: 0.0791

Alfa AF: 0.0861 Hom.: 1241

Bravo AF: 0.0709

Asia WGS AF: 0.209 AC: 731 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	14
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9568281; hg19: chr13-50185204;