rs8071050

Variant names:

• chr17-39950346-A-G
• rs8071050

Your query was ambiguous. Multiple possible variants found:

• chr17-39950346-A-G
• chr17-39950346-A-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 0.593 in 151,736 control chromosomes in the GnomAD database, including 27,215 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 0.59 (27215 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.597

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.688 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: 0.593 AC: 89885 AN: 151618 Hom.: 27188 Cov.: 30

Gnomad AFR AF: 0.695

Gnomad AMI AF: 0.591

Gnomad AMR AF: 0.637

Gnomad ASJ AF: 0.542

Gnomad EAS AF: 0.692

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.534

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.524

Gnomad OTH AF: 0.564

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

GnomAD4 genome AF: 0.593 AC: 89957 AN: 151736 Hom.: 27215 Cov.: 30 AF XY: 0.595 AC XY: 44089 AN XY: 74096

Gnomad4 AFR AF: 0.695

Gnomad4 AMR AF: 0.637

Gnomad4 ASJ AF: 0.542

Gnomad4 EAS AF: 0.691

Gnomad4 SAS AF: 0.622

Gnomad4 FIN AF: 0.534

Gnomad4 NFE AF: 0.524

Gnomad4 OTH AF: 0.565

Alfa AF: 0.558 Hom.: 5901

Bravo AF: 0.610

Asia WGS AF: 0.624 AC: 2169 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.3
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8071050; hg19: chr17-38106599;