rs1452747

chr8-113795367-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 0.474 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.267

Gnomad4 AMR AF: 0.372

Gnomad4 ASJ AF: 0.607

Gnomad4 EAS AF: 0.207

Gnomad4 SAS AF: 0.492

Gnomad4 FIN AF: 0.612

Gnomad4 NFE AF: 0.609

Gnomad4 OTH AF: 0.504

Alfa AF: 0.574 Hom.: 12821

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1452747; hg19: chr8-114807596;