8-43749219-C-T

Variant names:

• chr8-43749219-C-T
• rs8185794

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 0.793 in 151,108 control chromosomes in the GnomAD database, including 50,744 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 0.79 (50744 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.942 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: 0.793 AC: 119796 AN: 150988 Hom.: 50742 Cov.: 31

Gnomad AFR AF: 0.471

Gnomad AMI AF: 0.959

Gnomad AMR AF: 0.794

Gnomad ASJ AF: 0.923

Gnomad EAS AF: 0.863

Gnomad SAS AF: 0.858

Gnomad FIN AF: 0.936

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.948

Gnomad OTH AF: 0.818

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

GnomAD4 genome AF: 0.793 AC: 119821 AN: 151108 Hom.: 50744 Cov.: 31 AF XY: 0.793 AC XY: 58557 AN XY: 73818

African (AFR) AF: 0.470 AC: 19394 AN: 41274

American (AMR) AF: 0.794 AC: 11984 AN: 15098

Ashkenazi Jewish (ASJ) AF: 0.923 AC: 3188 AN: 3454

East Asian (EAS) AF: 0.864 AC: 4371 AN: 5060

South Asian (SAS) AF: 0.859 AC: 4136 AN: 4816

European-Finnish (FIN) AF: 0.936 AC: 9934 AN: 10610

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.948 AC: 63972 AN: 67502

Other (OTH) AF: 0.818 AC: 1708 AN: 2088

Alfa AF: 0.844 Hom.: 9522

Bravo AF: 0.767

Asia WGS AF: 0.802 AC: 2789 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.88
DANN	Benign	0.67

Splicing

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

Other links and lift over

dbSNP: rs8185794; hg19: chr8-43604362;