8-26961736-C-G

Position:

• chr8-26961736-C-G

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 0.407 in 152,072 control chromosomes in the GnomAD database, including 12,647 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 0.41 (12647 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.188

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.437 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: 0.406 AC: 61761 AN: 151954 Hom.: 12623 Cov.: 33

Gnomad AFR AF: 0.442

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.422

Gnomad ASJ AF: 0.312

Gnomad EAS AF: 0.426

Gnomad SAS AF: 0.404

Gnomad FIN AF: 0.369

Gnomad MID AF: 0.401

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.386

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

GnomAD4 genome AF: 0.407 AC: 61832 AN: 152072 Hom.: 12647 Cov.: 33 AF XY: 0.409 AC XY: 30377 AN XY: 74342

Gnomad4 AFR AF: 0.442

Gnomad4 AMR AF: 0.422

Gnomad4 ASJ AF: 0.312

Gnomad4 EAS AF: 0.426

Gnomad4 SAS AF: 0.403

Gnomad4 FIN AF: 0.369

Gnomad4 NFE AF: 0.391

Gnomad4 OTH AF: 0.386

Alfa AF: 0.244 Hom.: 556

Bravo AF: 0.413

Asia WGS AF: 0.396 AC: 1379 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.8
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1351499; hg19: chr8-26819253;