8-20183790-C-T

Position:

• chr8-20183790-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 0.773 in 152,190 control chromosomes in the GnomAD database, including 46,246 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 0.77 (46246 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.532

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.9 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: 0.773 AC: 117558 AN: 152072 Hom.: 46193 Cov.: 33

Gnomad AFR AF: 0.908

Gnomad AMI AF: 0.760

Gnomad AMR AF: 0.610

Gnomad ASJ AF: 0.805

Gnomad EAS AF: 0.717

Gnomad SAS AF: 0.675

Gnomad FIN AF: 0.706

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.748

Gnomad OTH AF: 0.768

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

GnomAD4 genome AF: 0.773 AC: 117664 AN: 152190 Hom.: 46246 Cov.: 33 AF XY: 0.764 AC XY: 56876 AN XY: 74404

Gnomad4 AFR AF: 0.908

Gnomad4 AMR AF: 0.610

Gnomad4 ASJ AF: 0.805

Gnomad4 EAS AF: 0.716

Gnomad4 SAS AF: 0.675

Gnomad4 FIN AF: 0.706

Gnomad4 NFE AF: 0.748

Gnomad4 OTH AF: 0.770

Alfa AF: 0.703 Hom.: 2895

Bravo AF: 0.774

Asia WGS AF: 0.721 AC: 2508 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.91
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs988713; hg19: chr8-20041301;