rs1472747

Variant names:

• chr8-93068803-A-G
• rs1472747

Your query was ambiguous. Multiple possible variants found:

• chr8-93068803-A-G
• chr8-93068803-A-T

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 0.116 in 151,854 control chromosomes in the GnomAD database, including 1,240 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 0.12 (1240 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.342
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.307 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: 0.116 AC: 17661 AN: 151740 Hom.: 1240 Cov.: 32

Gnomad AFR AF: 0.127

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.143

Gnomad EAS AF: 0.320

Gnomad SAS AF: 0.181

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.201

Gnomad NFE AF: 0.0863

Gnomad OTH AF: 0.135

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

GnomAD4 genome AF: 0.116 AC: 17666 AN: 151854 Hom.: 1240 Cov.: 32 AF XY: 0.118 AC XY: 8742 AN XY: 74240

African (AFR) AF: 0.126 AC: 5238 AN: 41430

American (AMR) AF: 0.165 AC: 2512 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.143 AC: 496 AN: 3464

East Asian (EAS) AF: 0.320 AC: 1654 AN: 5164

South Asian (SAS) AF: 0.180 AC: 867 AN: 4806

European-Finnish (FIN) AF: 0.0553 AC: 583 AN: 10552

Middle Eastern (MID) AF: 0.192 AC: 56 AN: 292

European-Non Finnish (NFE) AF: 0.0864 AC: 5865 AN: 67918

Other (OTH) AF: 0.138 AC: 291 AN: 2108

Alfa AF: 0.0987 Hom.: 139

Bravo AF: 0.127

Asia WGS AF: 0.253 AC: 876 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.88
DANN	Benign	0.74
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs1472747; hg19: chr8-94081031;