8-72534635-G-A

Variant names:

• chr8-72534635-G-A
• rs5007872

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 0.727 in 152,146 control chromosomes in the GnomAD database, including 40,231 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 0.73 (40231 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.363
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.774 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.727 AC: 110449 AN: 152028 Hom.: 40191 Cov.: 33

Gnomad AFR AF: 0.699

Gnomad AMI AF: 0.807

Gnomad AMR AF: 0.785

Gnomad ASJ AF: 0.731

Gnomad EAS AF: 0.697

Gnomad SAS AF: 0.646

Gnomad FIN AF: 0.766

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.731

Gnomad OTH AF: 0.726

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

GnomAD4 genome AF: 0.727 AC: 110542 AN: 152146 Hom.: 40231 Cov.: 33 AF XY: 0.728 AC XY: 54138 AN XY: 74380

African (AFR) AF: 0.699 AC: 29009 AN: 41506

American (AMR) AF: 0.786 AC: 12014 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.731 AC: 2538 AN: 3470

East Asian (EAS) AF: 0.697 AC: 3606 AN: 5174

South Asian (SAS) AF: 0.646 AC: 3116 AN: 4826

European-Finnish (FIN) AF: 0.766 AC: 8093 AN: 10568

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

European-Non Finnish (NFE) AF: 0.731 AC: 49728 AN: 67998

Other (OTH) AF: 0.723 AC: 1525 AN: 2110

Alfa AF: 0.728 Hom.: 5222

Bravo AF: 0.731

Asia WGS AF: 0.710 AC: 2467 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.4
DANN	Benign	0.20
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs5007872; hg19: chr8-73446870;