8-100800846-C-T

Position:

• chr8-100800846-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 0.129 in 150,866 control chromosomes in the GnomAD database, including 1,884 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 0.13 (1884 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00500

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.303 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: 0.129 AC: 19390 AN: 150748 Hom.: 1872 Cov.: 30

Gnomad AFR AF: 0.232

Gnomad AMI AF: 0.0507

Gnomad AMR AF: 0.199

Gnomad ASJ AF: 0.0621

Gnomad EAS AF: 0.315

Gnomad SAS AF: 0.0809

Gnomad FIN AF: 0.0560

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0564

Gnomad OTH AF: 0.122

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

GnomAD4 genome AF: 0.129 AC: 19452 AN: 150866 Hom.: 1884 Cov.: 30 AF XY: 0.132 AC XY: 9716 AN XY: 73578

Gnomad4 AFR AF: 0.232

Gnomad4 AMR AF: 0.200

Gnomad4 ASJ AF: 0.0621

Gnomad4 EAS AF: 0.316

Gnomad4 SAS AF: 0.0814

Gnomad4 FIN AF: 0.0560

Gnomad4 NFE AF: 0.0563

Gnomad4 OTH AF: 0.122

Alfa AF: 0.102 Hom.: 192

Bravo AF: 0.148

Asia WGS AF: 0.180 AC: 625 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	3.2
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3847152; hg19: chr8-101813074;