8-133603507-T-G

Variant names:

• chr8-133603507-T-G
• rs2945733

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 0.879 in 152,234 control chromosomes in the GnomAD database, including 59,228 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 0.88 (59228 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.436
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.946 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: 0.879 AC: 133700 AN: 152116 Hom.: 59166 Cov.: 32

Gnomad AFR AF: 0.954

Gnomad AMI AF: 0.809

Gnomad AMR AF: 0.884

Gnomad ASJ AF: 0.923

Gnomad EAS AF: 0.670

Gnomad SAS AF: 0.686

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.868

Gnomad OTH AF: 0.895

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

GnomAD4 genome AF: 0.879 AC: 133822 AN: 152234 Hom.: 59228 Cov.: 32 AF XY: 0.871 AC XY: 64839 AN XY: 74432

African (AFR) AF: 0.954 AC: 39639 AN: 41540

American (AMR) AF: 0.884 AC: 13528 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.923 AC: 3205 AN: 3472

East Asian (EAS) AF: 0.670 AC: 3454 AN: 5156

South Asian (SAS) AF: 0.687 AC: 3316 AN: 4828

European-Finnish (FIN) AF: 0.825 AC: 8748 AN: 10598

Middle Eastern (MID) AF: 0.939 AC: 276 AN: 294

European-Non Finnish (NFE) AF: 0.868 AC: 59030 AN: 68022

Other (OTH) AF: 0.894 AC: 1888 AN: 2112

Alfa AF: 0.876 Hom.: 108155

Bravo AF: 0.893

Asia WGS AF: 0.694 AC: 2412 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.8
DANN	Benign	0.71
PhyloP100		0.44

Splicing

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

Other links and lift over

dbSNP: rs2945733; hg19: chr8-134615750;