rs10811658

Variant names:

• chr9-22128601-G-A
• rs10811658

Your query was ambiguous. Multiple possible variants found:

• chr9-22128601-G-A
• chr9-22128601-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 0.347 in 151,960 control chromosomes in the GnomAD database, including 9,651 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 0.35 (9651 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.751

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.473 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: 0.347 AC: 52662 AN: 151842 Hom.: 9628 Cov.: 31

Gnomad AFR AF: 0.447

Gnomad AMI AF: 0.248

Gnomad AMR AF: 0.272

Gnomad ASJ AF: 0.274

Gnomad EAS AF: 0.490

Gnomad SAS AF: 0.270

Gnomad FIN AF: 0.357

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.325

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

GnomAD4 genome AF: 0.347 AC: 52741 AN: 151960 Hom.: 9651 Cov.: 31 AF XY: 0.346 AC XY: 25691 AN XY: 74266

Gnomad4 AFR AF: 0.448

Gnomad4 AMR AF: 0.272

Gnomad4 ASJ AF: 0.274

Gnomad4 EAS AF: 0.489

Gnomad4 SAS AF: 0.270

Gnomad4 FIN AF: 0.357

Gnomad4 NFE AF: 0.302

Gnomad4 OTH AF: 0.329

Alfa AF: 0.294 Hom.: 7182

Bravo AF: 0.349

Asia WGS AF: 0.396 AC: 1377 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.16
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10811658; hg19: chr9-22128600;