rs8080944

chr17-70189445-G-Achr17-70189445-G-Cchr17-70189445-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;