8-130768547-A-T

Variant names:

• chr8-130768547-A-T
• rs12545452

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 0.615 in 152,084 control chromosomes in the GnomAD database, including 29,593 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 0.61 (29593 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.235
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.717 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: 0.615 AC: 93429 AN: 151966 Hom.: 29573 Cov.: 33

Gnomad AFR AF: 0.723

Gnomad AMI AF: 0.852

Gnomad AMR AF: 0.548

Gnomad ASJ AF: 0.688

Gnomad EAS AF: 0.300

Gnomad SAS AF: 0.339

Gnomad FIN AF: 0.479

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.622

Gnomad OTH AF: 0.603

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

GnomAD4 genome AF: 0.615 AC: 93505 AN: 152084 Hom.: 29593 Cov.: 33 AF XY: 0.601 AC XY: 44687 AN XY: 74350

African (AFR) AF: 0.723 AC: 29994 AN: 41464

American (AMR) AF: 0.548 AC: 8375 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.688 AC: 2389 AN: 3470

East Asian (EAS) AF: 0.300 AC: 1548 AN: 5168

South Asian (SAS) AF: 0.337 AC: 1628 AN: 4824

European-Finnish (FIN) AF: 0.479 AC: 5068 AN: 10578

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.622 AC: 42277 AN: 67974

Other (OTH) AF: 0.603 AC: 1274 AN: 2114

Alfa AF: 0.513 Hom.: 1408

Bravo AF: 0.623

Asia WGS AF: 0.354 AC: 1235 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.9
DANN	Benign	0.74
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs12545452; hg19: chr8-131780793;