8-11482672-T-C

Variant names:

• chr8-11482672-T-C
• rs7812879

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 0.809 in 152,050 control chromosomes in the GnomAD database, including 49,923 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 0.81 (49923 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 46 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.848 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: 0.809 AC: 122861 AN: 151932 Hom.: 49874 Cov.: 30

Gnomad AFR AF: 0.785

Gnomad AMI AF: 0.675

Gnomad AMR AF: 0.860

Gnomad ASJ AF: 0.816

Gnomad EAS AF: 0.747

Gnomad SAS AF: 0.793

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.811

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

GnomAD4 genome AF: 0.809 AC: 122967 AN: 152050 Hom.: 49923 Cov.: 30 AF XY: 0.802 AC XY: 59580 AN XY: 74324

African (AFR) AF: 0.785 AC: 32534 AN: 41462

American (AMR) AF: 0.860 AC: 13145 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.816 AC: 2832 AN: 3472

East Asian (EAS) AF: 0.748 AC: 3865 AN: 5170

South Asian (SAS) AF: 0.793 AC: 3810 AN: 4806

European-Finnish (FIN) AF: 0.692 AC: 7314 AN: 10566

Middle Eastern (MID) AF: 0.823 AC: 242 AN: 294

European-Non Finnish (NFE) AF: 0.837 AC: 56897 AN: 67976

Other (OTH) AF: 0.814 AC: 1715 AN: 2108

Alfa AF: 0.830 Hom.: 98913

Bravo AF: 0.821

Asia WGS AF: 0.801 AC: 2787 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.17
DANN	Benign	0.20
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs7812879; hg19: chr8-11340181;