8-31587613-T-G

Variant names:

• chr8-31587613-T-G
• rs763551

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 0.574 in 151,856 control chromosomes in the GnomAD database, including 25,428 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 0.57 (25428 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.496
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.788 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.574 AC: 87064 AN: 151736 Hom.: 25408 Cov.: 31

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.601

Gnomad AMR AF: 0.500

Gnomad ASJ AF: 0.706

Gnomad EAS AF: 0.808

Gnomad SAS AF: 0.616

Gnomad FIN AF: 0.587

Gnomad MID AF: 0.665

Gnomad NFE AF: 0.606

Gnomad OTH AF: 0.588

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

GnomAD4 genome AF: 0.574 AC: 87132 AN: 151856 Hom.: 25428 Cov.: 31 AF XY: 0.572 AC XY: 42483 AN XY: 74242

African (AFR) AF: 0.497 AC: 20540 AN: 41366

American (AMR) AF: 0.500 AC: 7627 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.706 AC: 2448 AN: 3468

East Asian (EAS) AF: 0.808 AC: 4167 AN: 5154

South Asian (SAS) AF: 0.619 AC: 2987 AN: 4822

European-Finnish (FIN) AF: 0.587 AC: 6187 AN: 10548

Middle Eastern (MID) AF: 0.663 AC: 195 AN: 294

European-Non Finnish (NFE) AF: 0.606 AC: 41186 AN: 67916

Other (OTH) AF: 0.590 AC: 1247 AN: 2114

Alfa AF: 0.502 Hom.: 2323

Bravo AF: 0.564

Asia WGS AF: 0.687 AC: 2388 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.81
DANN	Benign	0.36
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs763551; hg19: chr8-31445129;