rs17232789

Variant names:

• chr8-121610260-T-C
• rs17232789

Your query was ambiguous. Multiple possible variants found:

• chr8-121610260-T-C
• chr8-121610260-T-G

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 0.436 in 152,064 control chromosomes in the GnomAD database, including 15,391 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 0.44 (15391 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.16

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 (EAS) allele frequency at 95% confidence interval = 0.893 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: 0.436 AC: 66303 AN: 151946 Hom.: 15382 Cov.: 32

Gnomad AFR AF: 0.378

Gnomad AMI AF: 0.467

Gnomad AMR AF: 0.512

Gnomad ASJ AF: 0.443

Gnomad EAS AF: 0.916

Gnomad SAS AF: 0.565

Gnomad FIN AF: 0.471

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.402

Gnomad OTH AF: 0.467

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

GnomAD4 genome AF: 0.436 AC: 66349 AN: 152064 Hom.: 15391 Cov.: 32 AF XY: 0.444 AC XY: 32972 AN XY: 74314

Gnomad4 AFR AF: 0.378

Gnomad4 AMR AF: 0.513

Gnomad4 ASJ AF: 0.443

Gnomad4 EAS AF: 0.915

Gnomad4 SAS AF: 0.565

Gnomad4 FIN AF: 0.471

Gnomad4 NFE AF: 0.402

Gnomad4 OTH AF: 0.469

Alfa AF: 0.421 Hom.: 18462

Bravo AF: 0.440

Asia WGS AF: 0.705 AC: 2450 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	0.37
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17232789; hg19: chr8-122622500;