8-132865017-T-C

Variant names:

• chr8-132865017-T-C
• rs180193

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.579 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

Gnomad4 AFR AF: 0.626

Gnomad4 AMR AF: 0.560

Gnomad4 ASJ AF: 0.501

Gnomad4 EAS AF: 0.674

Gnomad4 SAS AF: 0.488

Gnomad4 FIN AF: 0.553

Gnomad4 NFE AF: 0.562

Gnomad4 OTH AF: 0.564

Alfa AF: 0.577 Hom.: 8975

Bravo AF: 0.584

Asia WGS AF: 0.581 AC: 2020 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	3.8
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs180193; hg19: chr8-133877262;