8-73987779-C-T

Variant names:

• chr8-73987779-C-T
• rs1905045

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 0.829 in 152,022 control chromosomes in the GnomAD database, including 52,722 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 0.83 (52722 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.834

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.937 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: 0.829 AC: 125981 AN: 151904 Hom.: 52662 Cov.: 30

Gnomad AFR AF: 0.945

Gnomad AMI AF: 0.805

Gnomad AMR AF: 0.828

Gnomad ASJ AF: 0.748

Gnomad EAS AF: 0.748

Gnomad SAS AF: 0.753

Gnomad FIN AF: 0.778

Gnomad MID AF: 0.854

Gnomad NFE AF: 0.784

Gnomad OTH AF: 0.814

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

GnomAD4 genome AF: 0.829 AC: 126100 AN: 152022 Hom.: 52722 Cov.: 30 AF XY: 0.826 AC XY: 61358 AN XY: 74296

Gnomad4 AFR AF: 0.945

Gnomad4 AMR AF: 0.828

Gnomad4 ASJ AF: 0.748

Gnomad4 EAS AF: 0.747

Gnomad4 SAS AF: 0.754

Gnomad4 FIN AF: 0.778

Gnomad4 NFE AF: 0.784

Gnomad4 OTH AF: 0.814

Alfa AF: 0.800 Hom.: 28390

Bravo AF: 0.841

Asia WGS AF: 0.787 AC: 2737 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.34
DANN	Benign	0.84

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1905045; hg19: chr8-74900014;