rs7822726

Variant names:

• chr8-145049322-C-T
• rs7822726

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 0.76 in 151,986 control chromosomes in the GnomAD database, including 44,275 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 0.76 (44275 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.16

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.56).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.801 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: 0.761 AC: 115523 AN: 151868 Hom.: 44271 Cov.: 31

Gnomad AFR AF: 0.663

Gnomad AMI AF: 0.772

Gnomad AMR AF: 0.798

Gnomad ASJ AF: 0.760

Gnomad EAS AF: 0.820

Gnomad SAS AF: 0.795

Gnomad FIN AF: 0.745

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.807

Gnomad OTH AF: 0.760

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

GnomAD4 genome AF: 0.760 AC: 115563 AN: 151986 Hom.: 44275 Cov.: 31 AF XY: 0.761 AC XY: 56530 AN XY: 74300

Gnomad4 AFR AF: 0.663

Gnomad4 AMR AF: 0.798

Gnomad4 ASJ AF: 0.760

Gnomad4 EAS AF: 0.820

Gnomad4 SAS AF: 0.795

Gnomad4 FIN AF: 0.745

Gnomad4 NFE AF: 0.807

Gnomad4 OTH AF: 0.752

Alfa AF: 0.796 Hom.: 22030

Bravo AF: 0.760

Asia WGS AF: 0.759 AC: 2640 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.56
CADD	Benign	1.1
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7822726; hg19: chr8-146274708;