chr8-79726489-C-T

Position:

• chr8-79726489-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 0.0595 in 152,244 control chromosomes in the GnomAD database, including 284 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 0.059 (284 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00300

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0692 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: 0.0593 AC: 9028 AN: 152126 Hom.: 280 Cov.: 32

Gnomad AFR AF: 0.0709

Gnomad AMI AF: 0.0811

Gnomad AMR AF: 0.0291

Gnomad ASJ AF: 0.0349

Gnomad EAS AF: 0.0530

Gnomad SAS AF: 0.0480

Gnomad FIN AF: 0.0753

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0588

Gnomad OTH AF: 0.0621

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

GnomAD4 genome AF: 0.0595 AC: 9051 AN: 152244 Hom.: 284 Cov.: 32 AF XY: 0.0589 AC XY: 4387 AN XY: 74430

Gnomad4 AFR AF: 0.0714

Gnomad4 AMR AF: 0.0290

Gnomad4 ASJ AF: 0.0349

Gnomad4 EAS AF: 0.0526

Gnomad4 SAS AF: 0.0485

Gnomad4 FIN AF: 0.0753

Gnomad4 NFE AF: 0.0588

Gnomad4 OTH AF: 0.0614

Alfa AF: 0.0556 Hom.: 253

Bravo AF: 0.0562

Asia WGS AF: 0.0510 AC: 178 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.0
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11997947; hg19: chr8-80638724;