8-73153944-A-T

Variant names:

• chr8-73153944-A-T
• rs2383876

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 0.701 in 151,982 control chromosomes in the GnomAD database, including 38,102 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 0.70 (38102 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.930
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.853 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: 0.700 AC: 106369 AN: 151866 Hom.: 38063 Cov.: 30

Gnomad AFR AF: 0.861

Gnomad AMI AF: 0.662

Gnomad AMR AF: 0.598

Gnomad ASJ AF: 0.624

Gnomad EAS AF: 0.759

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.625

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.637

Gnomad OTH AF: 0.683

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

GnomAD4 genome AF: 0.701 AC: 106466 AN: 151982 Hom.: 38102 Cov.: 30 AF XY: 0.697 AC XY: 51777 AN XY: 74256

African (AFR) AF: 0.861 AC: 35698 AN: 41468

American (AMR) AF: 0.598 AC: 9121 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.624 AC: 2168 AN: 3472

East Asian (EAS) AF: 0.759 AC: 3908 AN: 5148

South Asian (SAS) AF: 0.726 AC: 3498 AN: 4818

European-Finnish (FIN) AF: 0.625 AC: 6578 AN: 10524

Middle Eastern (MID) AF: 0.602 AC: 177 AN: 294

European-Non Finnish (NFE) AF: 0.637 AC: 43272 AN: 67974

Other (OTH) AF: 0.684 AC: 1445 AN: 2112

Alfa AF: 0.671 Hom.: 4353

Bravo AF: 0.704

Asia WGS AF: 0.735 AC: 2557 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.77
DANN	Benign	0.17
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs2383876; hg19: chr8-74066179;