rs17810889

Variant names:

• chr8-11765727-A-G
• rs17810889

Your query was ambiguous. Multiple possible variants found:

• chr8-11765727-A-G
• chr8-11765727-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 0.285 in 152,214 control chromosomes in the GnomAD database, including 6,311 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 0.28 (6311 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.155

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.304 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: 0.285 AC: 43275 AN: 152096 Hom.: 6303 Cov.: 33

Gnomad AFR AF: 0.244

Gnomad AMI AF: 0.329

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.417

Gnomad EAS AF: 0.233

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.252

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.306

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.285 AC: 43323 AN: 152214 Hom.: 6311 Cov.: 33 AF XY: 0.282 AC XY: 21017 AN XY: 74432

Gnomad4 AFR AF: 0.244

Gnomad4 AMR AF: 0.311

Gnomad4 ASJ AF: 0.417

Gnomad4 EAS AF: 0.233

Gnomad4 SAS AF: 0.257

Gnomad4 FIN AF: 0.252

Gnomad4 NFE AF: 0.306

Gnomad4 OTH AF: 0.316

Alfa AF: 0.230 Hom.: 825

Bravo AF: 0.288

Asia WGS AF: 0.290 AC: 1009 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.5
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17810889; hg19: chr8-11623236;