rs930811

Variant names:

• chr9-2696555-G-A
• rs930811

Your query was ambiguous. Multiple possible variants found:

• chr9-2696555-G-A
• chr9-2696555-G-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 0.473 in 151,992 control chromosomes in the GnomAD database, including 17,502 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 0.47 (17502 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.63

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.688 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: 0.473 AC: 71896 AN: 151874 Hom.: 17474 Cov.: 33

Gnomad AFR AF: 0.521

Gnomad AMI AF: 0.493

Gnomad AMR AF: 0.531

Gnomad ASJ AF: 0.431

Gnomad EAS AF: 0.706

Gnomad SAS AF: 0.499

Gnomad FIN AF: 0.428

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.421

Gnomad OTH AF: 0.474

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

GnomAD4 genome AF: 0.473 AC: 71959 AN: 151992 Hom.: 17502 Cov.: 33 AF XY: 0.477 AC XY: 35460 AN XY: 74304

Gnomad4 AFR AF: 0.521

Gnomad4 AMR AF: 0.531

Gnomad4 ASJ AF: 0.431

Gnomad4 EAS AF: 0.708

Gnomad4 SAS AF: 0.499

Gnomad4 FIN AF: 0.428

Gnomad4 NFE AF: 0.421

Gnomad4 OTH AF: 0.480

Alfa AF: 0.436 Hom.: 25808

Bravo AF: 0.484

Asia WGS AF: 0.609 AC: 2115 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.0070
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs930811; hg19: chr9-2696555;