8-145049322-C-T

Variant names:

• chr8-145049322-C-T
• rs7822726

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 0.76 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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.663 AC: 27441 AN: 41394

American (AMR) AF: 0.798 AC: 12195 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.760 AC: 2637 AN: 3472

East Asian (EAS) AF: 0.820 AC: 4246 AN: 5176

South Asian (SAS) AF: 0.795 AC: 3832 AN: 4822

European-Finnish (FIN) AF: 0.745 AC: 7860 AN: 10548

Middle Eastern (MID) AF: 0.738 AC: 217 AN: 294

European-Non Finnish (NFE) AF: 0.807 AC: 54845 AN: 67976

Other (OTH) AF: 0.752 AC: 1586 AN: 2108

Alfa AF: 0.795 Hom.: 24651

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
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs7822726; hg19: chr8-146274708;