8-31587613-T-G

Variant names:

• chr8-31587613-T-G
• rs763551

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.574 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

Gnomad4 AFR AF: 0.497

Gnomad4 AMR AF: 0.500

Gnomad4 ASJ AF: 0.706

Gnomad4 EAS AF: 0.808

Gnomad4 SAS AF: 0.619

Gnomad4 FIN AF: 0.587

Gnomad4 NFE AF: 0.606

Gnomad4 OTH AF: 0.590

Alfa AF: 0.502 Hom.: 2227

Bravo AF: 0.564

Asia WGS AF: 0.687 AC: 2388 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	0.81
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs763551; hg19: chr8-31445129;