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. The variant received -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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.378 AC: 15682 AN: 41472

American (AMR) AF: 0.513 AC: 7837 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.443 AC: 1537 AN: 3470

East Asian (EAS) AF: 0.915 AC: 4737 AN: 5178

South Asian (SAS) AF: 0.565 AC: 2718 AN: 4810

European-Finnish (FIN) AF: 0.471 AC: 4976 AN: 10562

Middle Eastern (MID) AF: 0.446 AC: 131 AN: 294

European-Non Finnish (NFE) AF: 0.402 AC: 27315 AN: 67974

Other (OTH) AF: 0.469 AC: 991 AN: 2114

Alfa AF: 0.422 Hom.: 45159

Bravo AF: 0.440

Asia WGS AF: 0.705 AC: 2450 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.37
DANN	Benign	0.21
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs17232789; hg19: chr8-122622500;