rs8070464

Variant names:

• chr17-4609197-G-A
• rs8070464

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 0.686 in 152,090 control chromosomes in the GnomAD database, including 40,386 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 0.69 (40386 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00400

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.868 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: 0.686 AC: 104261 AN: 151972 Hom.: 40381 Cov.: 32

Gnomad AFR AF: 0.328

Gnomad AMI AF: 0.971

Gnomad AMR AF: 0.793

Gnomad ASJ AF: 0.834

Gnomad EAS AF: 0.332

Gnomad SAS AF: 0.637

Gnomad FIN AF: 0.830

Gnomad MID AF: 0.801

Gnomad NFE AF: 0.874

Gnomad OTH AF: 0.744

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

GnomAD4 genome AF: 0.686 AC: 104291 AN: 152090 Hom.: 40386 Cov.: 32 AF XY: 0.686 AC XY: 51011 AN XY: 74344

Gnomad4 AFR AF: 0.327

Gnomad4 AMR AF: 0.793

Gnomad4 ASJ AF: 0.834

Gnomad4 EAS AF: 0.332

Gnomad4 SAS AF: 0.638

Gnomad4 FIN AF: 0.830

Gnomad4 NFE AF: 0.874

Gnomad4 OTH AF: 0.744

Alfa AF: 0.844 Hom.: 76795

Bravo AF: 0.665

Asia WGS AF: 0.528 AC: 1837 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.5
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8070464; hg19: chr17-4512492;