8-26740131-C-T

Variant names:

• chr8-26740131-C-T
• rs17055869

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 0.0719 in 152,118 control chromosomes in the GnomAD database, including 406 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 0.072 (406 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.24
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0815 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0719 AC: 10926 AN: 151998 Hom.: 406 Cov.: 32

Gnomad AFR AF: 0.0839

Gnomad AMI AF: 0.0822

Gnomad AMR AF: 0.0655

Gnomad ASJ AF: 0.0542

Gnomad EAS AF: 0.0133

Gnomad SAS AF: 0.0551

Gnomad FIN AF: 0.0508

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0752

Gnomad OTH AF: 0.0875

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

GnomAD4 genome AF: 0.0719 AC: 10934 AN: 152118 Hom.: 406 Cov.: 32 AF XY: 0.0703 AC XY: 5228 AN XY: 74338

African (AFR) AF: 0.0839 AC: 3479 AN: 41484

American (AMR) AF: 0.0654 AC: 1000 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0542 AC: 188 AN: 3468

East Asian (EAS) AF: 0.0133 AC: 69 AN: 5182

South Asian (SAS) AF: 0.0554 AC: 267 AN: 4822

European-Finnish (FIN) AF: 0.0508 AC: 537 AN: 10568

Middle Eastern (MID) AF: 0.0850 AC: 25 AN: 294

European-Non Finnish (NFE) AF: 0.0751 AC: 5109 AN: 67994

Other (OTH) AF: 0.0875 AC: 185 AN: 2114

Alfa AF: 0.0271 Hom.: 15

Bravo AF: 0.0741

Asia WGS AF: 0.0460 AC: 159 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.38
DANN	Benign	0.38
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs17055869; hg19: chr8-26597648;