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. The variant received -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
• Publications: 9 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.695 AC: 28733 AN: 41366

American (AMR) AF: 0.637 AC: 9724 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.542 AC: 1874 AN: 3460

East Asian (EAS) AF: 0.691 AC: 3555 AN: 5142

South Asian (SAS) AF: 0.622 AC: 2979 AN: 4788

European-Finnish (FIN) AF: 0.534 AC: 5607 AN: 10504

Middle Eastern (MID) AF: 0.524 AC: 154 AN: 294

European-Non Finnish (NFE) AF: 0.524 AC: 35603 AN: 67902

Other (OTH) AF: 0.565 AC: 1190 AN: 2106

Alfa AF: 0.567 Hom.: 6817

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
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs8071050; hg19: chr17-38106599;