8-26745756-C-T

Variant names:

• chr8-26745756-C-T
• rs10503797

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 0.103 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
• Publications: 1 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 = 0.134 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: 0.103 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

African (AFR) AF: 0.115 AC: 4765 AN: 41510

American (AMR) AF: 0.0736 AC: 1125 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.141 AC: 489 AN: 3470

East Asian (EAS) AF: 0.000580 AC: 3 AN: 5174

South Asian (SAS) AF: 0.143 AC: 687 AN: 4806

European-Finnish (FIN) AF: 0.0814 AC: 862 AN: 10584

Middle Eastern (MID) AF: 0.130 AC: 38 AN: 292

European-Non Finnish (NFE) AF: 0.110 AC: 7460 AN: 67996

Other (OTH) AF: 0.106 AC: 224 AN: 2114

Alfa AF: 0.0920 Hom.: 341

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
PhyloP100		0.25

Splicing

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

Other links and lift over

dbSNP: rs10503797; hg19: chr8-26603273;