8-72943292-G-A

Variant names:

• chr8-72943292-G-A
• rs2981099

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 0.288 in 151,972 control chromosomes in the GnomAD database, including 7,897 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 0.29 (7897 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.657
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.826 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.288 AC: 43735 AN: 151854 Hom.: 7888 Cov.: 33

Gnomad AFR AF: 0.325

Gnomad AMI AF: 0.293

Gnomad AMR AF: 0.395

Gnomad ASJ AF: 0.289

Gnomad EAS AF: 0.848

Gnomad SAS AF: 0.534

Gnomad FIN AF: 0.169

Gnomad MID AF: 0.259

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.293

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

GnomAD4 genome AF: 0.288 AC: 43783 AN: 151972 Hom.: 7897 Cov.: 33 AF XY: 0.296 AC XY: 21985 AN XY: 74266

African (AFR) AF: 0.325 AC: 13456 AN: 41422

American (AMR) AF: 0.395 AC: 6042 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.289 AC: 1001 AN: 3466

East Asian (EAS) AF: 0.847 AC: 4386 AN: 5176

South Asian (SAS) AF: 0.532 AC: 2561 AN: 4814

European-Finnish (FIN) AF: 0.169 AC: 1778 AN: 10546

Middle Eastern (MID) AF: 0.265 AC: 78 AN: 294

European-Non Finnish (NFE) AF: 0.200 AC: 13584 AN: 67954

Other (OTH) AF: 0.298 AC: 631 AN: 2114

Alfa AF: 0.250 Hom.: 1331

Bravo AF: 0.303

Asia WGS AF: 0.602 AC: 2085 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.0
DANN	Benign	0.32
PhyloP100		0.66

Splicing

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

Other links and lift over

dbSNP: rs2981099; hg19: chr8-73855527;