rs722782

Variant names:

• chr8-566479-A-C
• rs722782

Your query was ambiguous. Multiple possible variants found:

• chr8-566479-A-C
• chr8-566479-A-G
• chr8-566479-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 0.842 in 152,176 control chromosomes in the GnomAD database, including 54,643 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 0.84 (54643 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.833

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 (NFE) allele frequency at 95% confidence interval = 0.899 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: 0.842 AC: 128071 AN: 152058 Hom.: 54641 Cov.: 33

Gnomad AFR AF: 0.765

Gnomad AMI AF: 0.968

Gnomad AMR AF: 0.855

Gnomad ASJ AF: 0.873

Gnomad EAS AF: 0.450

Gnomad SAS AF: 0.791

Gnomad FIN AF: 0.913

Gnomad MID AF: 0.920

Gnomad NFE AF: 0.905

Gnomad OTH AF: 0.842

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

GnomAD4 genome AF: 0.842 AC: 128116 AN: 152176 Hom.: 54643 Cov.: 33 AF XY: 0.839 AC XY: 62432 AN XY: 74396

Gnomad4 AFR AF: 0.765

Gnomad4 AMR AF: 0.855

Gnomad4 ASJ AF: 0.873

Gnomad4 EAS AF: 0.450

Gnomad4 SAS AF: 0.791

Gnomad4 FIN AF: 0.913

Gnomad4 NFE AF: 0.905

Gnomad4 OTH AF: 0.841

Alfa AF: 0.888 Hom.: 107398

Bravo AF: 0.835

Asia WGS AF: 0.658 AC: 2289 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	2.6
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs722782; hg19: chr8-516479;