8-54891182-A-G

Variant names:

• chr8-54891182-A-G
• rs7824078

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 0.637 in 152,088 control chromosomes in the GnomAD database, including 32,189 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 0.64 (32189 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.65
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.822 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: 0.637 AC: 96801 AN: 151970 Hom.: 32163 Cov.: 32

Gnomad AFR AF: 0.441

Gnomad AMI AF: 0.713

Gnomad AMR AF: 0.680

Gnomad ASJ AF: 0.651

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.843

Gnomad FIN AF: 0.764

Gnomad MID AF: 0.639

Gnomad NFE AF: 0.697

Gnomad OTH AF: 0.613

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

GnomAD4 genome AF: 0.637 AC: 96865 AN: 152088 Hom.: 32189 Cov.: 32 AF XY: 0.646 AC XY: 48048 AN XY: 74350

African (AFR) AF: 0.441 AC: 18306 AN: 41468

American (AMR) AF: 0.680 AC: 10406 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.651 AC: 2260 AN: 3470

East Asian (EAS) AF: 0.821 AC: 4238 AN: 5160

South Asian (SAS) AF: 0.844 AC: 4071 AN: 4824

European-Finnish (FIN) AF: 0.764 AC: 8078 AN: 10580

Middle Eastern (MID) AF: 0.643 AC: 189 AN: 294

European-Non Finnish (NFE) AF: 0.697 AC: 47370 AN: 67970

Other (OTH) AF: 0.614 AC: 1297 AN: 2112

Alfa AF: 0.679 Hom.: 159044

Bravo AF: 0.620

Asia WGS AF: 0.788 AC: 2740 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.25
DANN	Benign	0.85
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs7824078; hg19: chr8-55803742;