8-26720128-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 0.0378 in 152,178 control chromosomes in the GnomAD database, including 171 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 0.038 (171 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.271

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0529 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: 0.0379 AC: 5763 AN: 152060 Hom.: 171 Cov.: 30

Gnomad AFR AF: 0.0110

Gnomad AMI AF: 0.0241

Gnomad AMR AF: 0.0404

Gnomad ASJ AF: 0.0845

Gnomad EAS AF: 0.000771

Gnomad SAS AF: 0.0307

Gnomad FIN AF: 0.0385

Gnomad MID AF: 0.0732

Gnomad NFE AF: 0.0543

Gnomad OTH AF: 0.0464

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

GnomAD4 genome AF: 0.0378 AC: 5759 AN: 152178 Hom.: 171 Cov.: 30 AF XY: 0.0373 AC XY: 2774 AN XY: 74410

Gnomad4 AFR AF: 0.0110

Gnomad4 AMR AF: 0.0403

Gnomad4 ASJ AF: 0.0845

Gnomad4 EAS AF: 0.000966

Gnomad4 SAS AF: 0.0307

Gnomad4 FIN AF: 0.0385

Gnomad4 NFE AF: 0.0543

Gnomad4 OTH AF: 0.0459

Alfa AF: 0.0204 Hom.: 9

Bravo AF: 0.0376

Asia WGS AF: 0.0120 AC: 42 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	0.30
Dann	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs73229635; hg19: chr8-26577645;