8-131318469-T-C

Variant names:

• chr8-131318469-T-C
• rs10108033

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 0.869 in 152,062 control chromosomes in the GnomAD database, including 58,082 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 0.87 (58082 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.716
• Publications: 7 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 = 0.938 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: 0.869 AC: 132115 AN: 151944 Hom.: 58042 Cov.: 31

Gnomad AFR AF: 0.946

Gnomad AMI AF: 0.947

Gnomad AMR AF: 0.802

Gnomad ASJ AF: 0.875

Gnomad EAS AF: 0.517

Gnomad SAS AF: 0.760

Gnomad FIN AF: 0.868

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.873

Gnomad OTH AF: 0.845

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

GnomAD4 genome AF: 0.869 AC: 132200 AN: 152062 Hom.: 58082 Cov.: 31 AF XY: 0.863 AC XY: 64154 AN XY: 74314

African (AFR) AF: 0.945 AC: 39212 AN: 41476

American (AMR) AF: 0.802 AC: 12242 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.875 AC: 3038 AN: 3472

East Asian (EAS) AF: 0.516 AC: 2655 AN: 5146

South Asian (SAS) AF: 0.761 AC: 3662 AN: 4814

European-Finnish (FIN) AF: 0.868 AC: 9161 AN: 10558

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.873 AC: 59368 AN: 68004

Other (OTH) AF: 0.835 AC: 1765 AN: 2114

Alfa AF: 0.870 Hom.: 84087

Bravo AF: 0.866

Asia WGS AF: 0.624 AC: 2174 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.1
DANN	Benign	0.52
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs10108033; hg19: chr8-132330716;