8-132865017-T-C

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;