rs17120471

Variant names:

• chr8-12834362-T-C
• rs17120471

Your query was ambiguous. Multiple possible variants found:

• chr8-12834362-T-C
• chr8-12834362-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 0.149 in 152,234 control chromosomes in the GnomAD database, including 1,922 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 0.15 (1922 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.104

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.248 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: 0.149 AC: 22621 AN: 152116 Hom.: 1914 Cov.: 33

Gnomad AFR AF: 0.178

Gnomad AMI AF: 0.0406

Gnomad AMR AF: 0.224

Gnomad ASJ AF: 0.134

Gnomad EAS AF: 0.260

Gnomad SAS AF: 0.200

Gnomad FIN AF: 0.101

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.111

Gnomad OTH AF: 0.168

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

GnomAD4 genome AF: 0.149 AC: 22649 AN: 152234 Hom.: 1922 Cov.: 33 AF XY: 0.150 AC XY: 11196 AN XY: 74438

Gnomad4 AFR AF: 0.178

Gnomad4 AMR AF: 0.225

Gnomad4 ASJ AF: 0.134

Gnomad4 EAS AF: 0.260

Gnomad4 SAS AF: 0.200

Gnomad4 FIN AF: 0.101

Gnomad4 NFE AF: 0.111

Gnomad4 OTH AF: 0.169

Alfa AF: 0.145 Hom.: 338

Bravo AF: 0.160

Asia WGS AF: 0.248 AC: 860 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.3
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17120471; hg19: chr8-12691871;