8-131626084-C-T

Variant names:

• chr8-131626084-C-T
• rs950604

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 0.217 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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.211 AC: 8730 AN: 41396

American (AMR) AF: 0.167 AC: 2549 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.319 AC: 1105 AN: 3468

East Asian (EAS) AF: 0.244 AC: 1256 AN: 5152

South Asian (SAS) AF: 0.393 AC: 1887 AN: 4800

European-Finnish (FIN) AF: 0.195 AC: 2047 AN: 10478

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.216 AC: 14651 AN: 67930

Other (OTH) AF: 0.229 AC: 484 AN: 2110

Alfa AF: 0.217 Hom.: 16574

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
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs950604; hg19: chr8-132638331;