8-127483114-T-C

Variant names:

• chr8-127483114-T-C
• rs1447296

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 0.875 in 152,184 control chromosomes in the GnomAD database, including 58,397 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 (58397 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.535
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.905 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.875 AC: 133099 AN: 152066 Hom.: 58362 Cov.: 32

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.919

Gnomad ASJ AF: 0.939

Gnomad EAS AF: 0.844

Gnomad SAS AF: 0.869

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.898

Gnomad OTH AF: 0.889

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

GnomAD4 genome AF: 0.875 AC: 133187 AN: 152184 Hom.: 58397 Cov.: 32 AF XY: 0.873 AC XY: 64927 AN XY: 74394

African (AFR) AF: 0.833 AC: 34580 AN: 41514

American (AMR) AF: 0.918 AC: 14050 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.939 AC: 3257 AN: 3470

East Asian (EAS) AF: 0.844 AC: 4369 AN: 5176

South Asian (SAS) AF: 0.870 AC: 4197 AN: 4826

European-Finnish (FIN) AF: 0.825 AC: 8723 AN: 10572

Middle Eastern (MID) AF: 0.949 AC: 279 AN: 294

European-Non Finnish (NFE) AF: 0.898 AC: 61046 AN: 68012

Other (OTH) AF: 0.884 AC: 1862 AN: 2106

Alfa AF: 0.888 Hom.: 31326

Bravo AF: 0.878

Asia WGS AF: 0.803 AC: 2795 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.5
DANN	Benign	0.48
PhyloP100		-0.54

Splicing

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

Other links and lift over

dbSNP: rs1447296; hg19: chr8-128495359;