8-72941326-C-T

Variant names:

• chr8-72941326-C-T
• rs922772

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 0.578 in 151,968 control chromosomes in the GnomAD database, including 26,400 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 0.58 (26400 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.02
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.922 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: 0.578 AC: 87770 AN: 151850 Hom.: 26387 Cov.: 32

Gnomad AFR AF: 0.436

Gnomad AMI AF: 0.775

Gnomad AMR AF: 0.676

Gnomad ASJ AF: 0.601

Gnomad EAS AF: 0.944

Gnomad SAS AF: 0.743

Gnomad FIN AF: 0.571

Gnomad MID AF: 0.554

Gnomad NFE AF: 0.600

Gnomad OTH AF: 0.591

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

GnomAD4 genome AF: 0.578 AC: 87831 AN: 151968 Hom.: 26400 Cov.: 32 AF XY: 0.584 AC XY: 43394 AN XY: 74264

African (AFR) AF: 0.436 AC: 18047 AN: 41424

American (AMR) AF: 0.676 AC: 10329 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.601 AC: 2084 AN: 3468

East Asian (EAS) AF: 0.944 AC: 4894 AN: 5186

South Asian (SAS) AF: 0.743 AC: 3579 AN: 4818

European-Finnish (FIN) AF: 0.571 AC: 6006 AN: 10524

Middle Eastern (MID) AF: 0.558 AC: 164 AN: 294

European-Non Finnish (NFE) AF: 0.600 AC: 40761 AN: 67954

Other (OTH) AF: 0.596 AC: 1260 AN: 2114

Alfa AF: 0.591 Hom.: 39747

Bravo AF: 0.577

Asia WGS AF: 0.811 AC: 2816 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	9.2
DANN	Benign	0.35
PhyloP100		1.0

Splicing

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

Other links and lift over

dbSNP: rs922772; hg19: chr8-73853561;