8-131626084-C-T

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 0.217 in 151,794 control chromosomes in the GnomAD database, including 3,740 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 0.22 (3740 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.127

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.378 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: 0.217 AC: 32952 AN: 151676 Hom.: 3737 Cov.: 32

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.183

Gnomad AMR AF: 0.167

Gnomad ASJ AF: 0.319

Gnomad EAS AF: 0.243

Gnomad SAS AF: 0.393

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.216

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.217 AC: 32962 AN: 151794 Hom.: 3740 Cov.: 32 AF XY: 0.219 AC XY: 16225 AN XY: 74138

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.167

Gnomad4 ASJ AF: 0.319

Gnomad4 EAS AF: 0.244

Gnomad4 SAS AF: 0.393

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.216

Gnomad4 OTH AF: 0.229

Alfa AF: 0.221 Hom.: 8287

Bravo AF: 0.209

Asia WGS AF: 0.329 AC: 1143 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	7.3
Dann	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs950604; hg19: chr8-132638331;