rs8073706

chr17-50632580-A-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 0.465 in 151,996 control chromosomes in the GnomAD database, including 18,025 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 0.46 (18025 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0150

ACMG classification

Verdict is Benign. Variant got -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 = 0.892 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: 0.465 AC: 70554 AN: 151878 Hom.: 18008 Cov.: 32

Gnomad AFR AF: 0.585

Gnomad AMI AF: 0.229

Gnomad AMR AF: 0.566

Gnomad ASJ AF: 0.463

Gnomad EAS AF: 0.914

Gnomad SAS AF: 0.613

Gnomad FIN AF: 0.344

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.347

Gnomad OTH AF: 0.449

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

GnomAD4 genome AF: 0.465 AC: 70624 AN: 151996 Hom.: 18025 Cov.: 32 AF XY: 0.472 AC XY: 35086 AN XY: 74314

Gnomad4 AFR AF: 0.585

Gnomad4 AMR AF: 0.567

Gnomad4 ASJ AF: 0.463

Gnomad4 EAS AF: 0.913

Gnomad4 SAS AF: 0.610

Gnomad4 FIN AF: 0.344

Gnomad4 NFE AF: 0.347

Gnomad4 OTH AF: 0.455

Alfa AF: 0.440 Hom.: 2545

Bravo AF: 0.486

Asia WGS AF: 0.782 AC: 2718 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	4.3
Dann	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8073706; hg19: chr17-48709941;