rs8069452

Variant names:

• chr17-49063637-G-A
• rs8069452

Your query was ambiguous. Multiple possible variants found:

• chr17-49063637-G-A
• chr17-49063637-G-C

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 0.493 in 151,974 control chromosomes in the GnomAD database, including 19,153 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 0.49 (19153 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.585
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.573 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: 0.493 AC: 74879 AN: 151856 Hom.: 19141 Cov.: 32

Gnomad AFR AF: 0.579

Gnomad AMI AF: 0.327

Gnomad AMR AF: 0.470

Gnomad ASJ AF: 0.531

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.433

Gnomad FIN AF: 0.460

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.486

Gnomad OTH AF: 0.461

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

GnomAD4 genome AF: 0.493 AC: 74925 AN: 151974 Hom.: 19153 Cov.: 32 AF XY: 0.488 AC XY: 36272 AN XY: 74288

African (AFR) AF: 0.579 AC: 23992 AN: 41424

American (AMR) AF: 0.469 AC: 7169 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.531 AC: 1840 AN: 3468

East Asian (EAS) AF: 0.106 AC: 547 AN: 5164

South Asian (SAS) AF: 0.433 AC: 2085 AN: 4820

European-Finnish (FIN) AF: 0.460 AC: 4852 AN: 10556

Middle Eastern (MID) AF: 0.544 AC: 160 AN: 294

European-Non Finnish (NFE) AF: 0.486 AC: 33018 AN: 67960

Other (OTH) AF: 0.457 AC: 964 AN: 2108

Alfa AF: 0.486 Hom.: 10366

Bravo AF: 0.494

Asia WGS AF: 0.299 AC: 1041 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.67
DANN	Benign	0.67
PhyloP100		-0.58

Splicing

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

Other links and lift over

dbSNP: rs8069452; hg19: chr17-47140999;