8-56925736-T-C

Variant names:

• chr8-56925736-T-C
• rs17791051

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 0.0816 in 151,930 control chromosomes in the GnomAD database, including 545 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 0.082 (545 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.104

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0993 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: 0.0816 AC: 12390 AN: 151812 Hom.: 545 Cov.: 32

Gnomad AFR AF: 0.0591

Gnomad AMI AF: 0.0857

Gnomad AMR AF: 0.0599

Gnomad ASJ AF: 0.0802

Gnomad EAS AF: 0.0695

Gnomad SAS AF: 0.0906

Gnomad FIN AF: 0.0743

Gnomad MID AF: 0.104

Gnomad NFE AF: 0.101

Gnomad OTH AF: 0.0900

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

GnomAD4 genome AF: 0.0816 AC: 12397 AN: 151930 Hom.: 545 Cov.: 32 AF XY: 0.0795 AC XY: 5900 AN XY: 74250

Gnomad4 AFR AF: 0.0590

Gnomad4 AMR AF: 0.0598

Gnomad4 ASJ AF: 0.0802

Gnomad4 EAS AF: 0.0701

Gnomad4 SAS AF: 0.0917

Gnomad4 FIN AF: 0.0743

Gnomad4 NFE AF: 0.101

Gnomad4 OTH AF: 0.0885

Alfa AF: 0.0952 Hom.: 332

Bravo AF: 0.0799

Asia WGS AF: 0.0760 AC: 262 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.1
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17791051; hg19: chr8-57838295;