rs9547976

Variant names:

• chr13-37611591-A-G
• rs9547976

Your query was ambiguous. Multiple possible variants found:

• chr13-37611591-A-G
• chr13-37611591-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 0.201 in 151,764 control chromosomes in the GnomAD database, including 3,713 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 0.20 (3713 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.330

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.272 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: 0.201 AC: 30453 AN: 151646 Hom.: 3714 Cov.: 32

Gnomad AFR AF: 0.0781

Gnomad AMI AF: 0.305

Gnomad AMR AF: 0.170

Gnomad ASJ AF: 0.213

Gnomad EAS AF: 0.0633

Gnomad SAS AF: 0.138

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.275

Gnomad OTH AF: 0.201

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

GnomAD4 genome AF: 0.201 AC: 30455 AN: 151764 Hom.: 3713 Cov.: 32 AF XY: 0.200 AC XY: 14844 AN XY: 74112

Gnomad4 AFR AF: 0.0779

Gnomad4 AMR AF: 0.169

Gnomad4 ASJ AF: 0.213

Gnomad4 EAS AF: 0.0636

Gnomad4 SAS AF: 0.138

Gnomad4 FIN AF: 0.332

Gnomad4 NFE AF: 0.275

Gnomad4 OTH AF: 0.202

Alfa AF: 0.225 Hom.: 544

Bravo AF: 0.183

Asia WGS AF: 0.145 AC: 507 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.68
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9547976; hg19: chr13-38185728;