rs9881157

Variant names:

• chr3-35610457-C-A
• rs9881157

Your query was ambiguous. Multiple possible variants found:

• chr3-35610457-C-A
• chr3-35610457-C-G
• chr3-35610457-C-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 0.735 in 151,956 control chromosomes in the GnomAD database, including 41,345 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 0.74 (41345 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.20

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.827 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: 0.735 AC: 111637 AN: 151838 Hom.: 41309 Cov.: 31

Gnomad AFR AF: 0.834

Gnomad AMI AF: 0.673

Gnomad AMR AF: 0.689

Gnomad ASJ AF: 0.675

Gnomad EAS AF: 0.651

Gnomad SAS AF: 0.792

Gnomad FIN AF: 0.638

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.708

Gnomad OTH AF: 0.718

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

GnomAD4 genome AF: 0.735 AC: 111723 AN: 151956 Hom.: 41345 Cov.: 31 AF XY: 0.731 AC XY: 54307 AN XY: 74270

Gnomad4 AFR AF: 0.834

Gnomad4 AMR AF: 0.689

Gnomad4 ASJ AF: 0.675

Gnomad4 EAS AF: 0.649

Gnomad4 SAS AF: 0.793

Gnomad4 FIN AF: 0.638

Gnomad4 NFE AF: 0.708

Gnomad4 OTH AF: 0.715

Alfa AF: 0.711 Hom.: 35770

Bravo AF: 0.739

Asia WGS AF: 0.710 AC: 2468 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	0.48
DANN	Benign	0.18

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9881157; hg19: chr3-35651949;