rs8080944

Variant names:

• chr17-70189445-G-A
• rs8080944

Your query was ambiguous. Multiple possible variants found:

• chr17-70189445-G-A
• chr17-70189445-G-C
• chr17-70189445-G-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 0.554 in 151,768 control chromosomes in the GnomAD database, including 23,535 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 0.55 (23535 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.12

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.593 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: 0.554 AC: 84004 AN: 151650 Hom.: 23504 Cov.: 31

Gnomad AFR AF: 0.480

Gnomad AMI AF: 0.665

Gnomad AMR AF: 0.512

Gnomad ASJ AF: 0.568

Gnomad EAS AF: 0.611

Gnomad SAS AF: 0.578

Gnomad FIN AF: 0.602

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.593

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.554 AC: 84084 AN: 151768 Hom.: 23535 Cov.: 31 AF XY: 0.551 AC XY: 40873 AN XY: 74162

Gnomad4 AFR AF: 0.480

Gnomad4 AMR AF: 0.512

Gnomad4 ASJ AF: 0.568

Gnomad4 EAS AF: 0.611

Gnomad4 SAS AF: 0.578

Gnomad4 FIN AF: 0.602

Gnomad4 NFE AF: 0.593

Gnomad4 OTH AF: 0.545

Alfa AF: 0.571 Hom.: 3132

Bravo AF: 0.541

Asia WGS AF: 0.594 AC: 2065 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.58
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: rs8080944; hg19: chr17-68185586;