chr8-26663044-C-T

Variant names:

• chr8-26663044-C-T
• rs12155555

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 0.0924 in 152,158 control chromosomes in the GnomAD database, including 763 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 0.092 (763 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.281

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.117 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: 0.0925 AC: 14061 AN: 152040 Hom.: 765 Cov.: 32

Gnomad AFR AF: 0.110

Gnomad AMI AF: 0.0912

Gnomad AMR AF: 0.0862

Gnomad ASJ AF: 0.116

Gnomad EAS AF: 0.00368

Gnomad SAS AF: 0.125

Gnomad FIN AF: 0.0402

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.0940

Gnomad OTH AF: 0.106

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

GnomAD4 genome AF: 0.0924 AC: 14061 AN: 152158 Hom.: 763 Cov.: 32 AF XY: 0.0918 AC XY: 6826 AN XY: 74368

Gnomad4 AFR AF: 0.110

Gnomad4 AMR AF: 0.0861

Gnomad4 ASJ AF: 0.116

Gnomad4 EAS AF: 0.00388

Gnomad4 SAS AF: 0.125

Gnomad4 FIN AF: 0.0402

Gnomad4 NFE AF: 0.0940

Gnomad4 OTH AF: 0.105

Alfa AF: 0.0903 Hom.: 129

Bravo AF: 0.0946

Asia WGS AF: 0.0600 AC: 210 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.3
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12155555; hg19: chr8-26520560;