8-132865017-T-C

Variant names:

• chr8-132865017-T-C
• rs180193

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 0.579 in 151,890 control chromosomes in the GnomAD database, including 25,606 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 0.58 (25606 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.323
• 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 (EAS) allele frequency at 95% confidence interval = 0.655 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.579 AC: 87828 AN: 151772 Hom.: 25568 Cov.: 31

Gnomad AFR AF: 0.626

Gnomad AMI AF: 0.564

Gnomad AMR AF: 0.560

Gnomad ASJ AF: 0.501

Gnomad EAS AF: 0.674

Gnomad SAS AF: 0.490

Gnomad FIN AF: 0.553

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.562

Gnomad OTH AF: 0.558

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

GnomAD4 genome AF: 0.579 AC: 87924 AN: 151890 Hom.: 25606 Cov.: 31 AF XY: 0.575 AC XY: 42690 AN XY: 74218

African (AFR) AF: 0.626 AC: 25939 AN: 41416

American (AMR) AF: 0.560 AC: 8552 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.501 AC: 1736 AN: 3466

East Asian (EAS) AF: 0.674 AC: 3471 AN: 5152

South Asian (SAS) AF: 0.488 AC: 2352 AN: 4816

European-Finnish (FIN) AF: 0.553 AC: 5832 AN: 10542

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.562 AC: 38177 AN: 67908

Other (OTH) AF: 0.564 AC: 1192 AN: 2114

Alfa AF: 0.576 Hom.: 10950

Bravo AF: 0.584

Asia WGS AF: 0.581 AC: 2020 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	3.8
DANN	Benign	0.57
PhyloP100		0.32

Splicing

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

Other links and lift over

dbSNP: rs180193; hg19: chr8-133877262;