8-114545658-C-T

Position:

• chr8-114545658-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 0.275 in 151,480 control chromosomes in the GnomAD database, including 5,828 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 0.27 (5828 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00800

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.312 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.275 AC: 41606 AN: 151364 Hom.: 5824 Cov.: 31

Gnomad AFR AF: 0.317

Gnomad AMI AF: 0.182

Gnomad AMR AF: 0.279

Gnomad ASJ AF: 0.307

Gnomad EAS AF: 0.288

Gnomad SAS AF: 0.310

Gnomad FIN AF: 0.279

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.244

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.275 AC: 41640 AN: 151480 Hom.: 5828 Cov.: 31 AF XY: 0.279 AC XY: 20625 AN XY: 73986

Gnomad4 AFR AF: 0.317

Gnomad4 AMR AF: 0.279

Gnomad4 ASJ AF: 0.307

Gnomad4 EAS AF: 0.288

Gnomad4 SAS AF: 0.312

Gnomad4 FIN AF: 0.279

Gnomad4 NFE AF: 0.244

Gnomad4 OTH AF: 0.267

Alfa AF: 0.254 Hom.: 628

Bravo AF: 0.278

Asia WGS AF: 0.266 AC: 920 AN: 3456

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.2
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs994082; hg19: chr8-115557887;