8-26745756-C-T

Position:

• chr8-26745756-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 0.103 in 152,142 control chromosomes in the GnomAD database, including 862 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 0.10 (862 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.246

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 = 0.134 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.103 AC: 15675 AN: 152024 Hom.: 862 Cov.: 32

Gnomad AFR AF: 0.115

Gnomad AMI AF: 0.0197

Gnomad AMR AF: 0.0738

Gnomad ASJ AF: 0.141

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.143

Gnomad FIN AF: 0.0814

Gnomad MID AF: 0.137

Gnomad NFE AF: 0.110

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.103 AC: 15671 AN: 152142 Hom.: 862 Cov.: 32 AF XY: 0.101 AC XY: 7516 AN XY: 74374

Gnomad4 AFR AF: 0.115

Gnomad4 AMR AF: 0.0736

Gnomad4 ASJ AF: 0.141

Gnomad4 EAS AF: 0.000580

Gnomad4 SAS AF: 0.143

Gnomad4 FIN AF: 0.0814

Gnomad4 NFE AF: 0.110

Gnomad4 OTH AF: 0.106

Alfa AF: 0.0732 Hom.: 119

Bravo AF: 0.0998

Asia WGS AF: 0.0540 AC: 188 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	5.6
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10503797; hg19: chr8-26603273;