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. The variant received -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
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0334 AC: 1386 AN: 41554

American (AMR) AF: 0.0681 AC: 1041 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.120 AC: 416 AN: 3472

East Asian (EAS) AF: 0.219 AC: 1129 AN: 5152

South Asian (SAS) AF: 0.226 AC: 1090 AN: 4824

European-Finnish (FIN) AF: 0.125 AC: 1324 AN: 10586

Middle Eastern (MID) AF: 0.0850 AC: 25 AN: 294

European-Non Finnish (NFE) AF: 0.0787 AC: 5352 AN: 68010

Other (OTH) AF: 0.0791 AC: 167 AN: 2112

Alfa AF: 0.0834 Hom.: 1860

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
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs9568281; hg19: chr13-50185204;