rs10505546

chr8-130027263-T-Achr8-130027263-T-C

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 0.453 in 151,764 control chromosomes in the GnomAD database, including 15,733 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 0.45 (15733 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.15

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.49 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.453 AC: 68687 AN: 151646 Hom.: 15712 Cov.: 31

Gnomad AFR AF: 0.416

Gnomad AMI AF: 0.688

Gnomad AMR AF: 0.499

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.370

Gnomad SAS AF: 0.359

Gnomad FIN AF: 0.500

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.468

Gnomad OTH AF: 0.435

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

GnomAD4 genome AF: 0.453 AC: 68752 AN: 151764 Hom.: 15733 Cov.: 31 AF XY: 0.453 AC XY: 33523 AN XY: 74082

Gnomad4 AFR AF: 0.416

Gnomad4 AMR AF: 0.499

Gnomad4 ASJ AF: 0.446

Gnomad4 EAS AF: 0.370

Gnomad4 SAS AF: 0.360

Gnomad4 FIN AF: 0.500

Gnomad4 NFE AF: 0.468

Gnomad4 OTH AF: 0.439

Alfa AF: 0.336 Hom.: 891

Bravo AF: 0.453

Asia WGS AF: 0.420 AC: 1459 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	0.67
Dann	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10505546; hg19: chr8-131039509;