rs1452747

Variant names:

• chr8-113795367-T-C
• rs1452747

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 0.474 in 152,014 control chromosomes in the GnomAD database, including 19,168 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 0.47 (19168 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.126
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.604 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: 0.474 AC: 72007 AN: 151894 Hom.: 19167 Cov.: 32

Gnomad AFR AF: 0.267

Gnomad AMI AF: 0.738

Gnomad AMR AF: 0.373

Gnomad ASJ AF: 0.607

Gnomad EAS AF: 0.207

Gnomad SAS AF: 0.490

Gnomad FIN AF: 0.612

Gnomad MID AF: 0.574

Gnomad NFE AF: 0.609

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.474 AC: 72024 AN: 152014 Hom.: 19168 Cov.: 32 AF XY: 0.469 AC XY: 34883 AN XY: 74314

African (AFR) AF: 0.267 AC: 11082 AN: 41486

American (AMR) AF: 0.372 AC: 5683 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.607 AC: 2107 AN: 3470

East Asian (EAS) AF: 0.207 AC: 1070 AN: 5172

South Asian (SAS) AF: 0.492 AC: 2372 AN: 4824

European-Finnish (FIN) AF: 0.612 AC: 6472 AN: 10568

Middle Eastern (MID) AF: 0.582 AC: 170 AN: 292

European-Non Finnish (NFE) AF: 0.609 AC: 41331 AN: 67914

Other (OTH) AF: 0.504 AC: 1064 AN: 2112

Alfa AF: 0.556 Hom.: 17625

Bravo AF: 0.444

Asia WGS AF: 0.349 AC: 1210 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.6
DANN	Benign	0.80
PhyloP100		-0.13

Splicing

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

Other links and lift over

dbSNP: rs1452747; hg19: chr8-114807596;