chr8-20183790-C-T

Variant names:

• chr8-20183790-C-T
• rs988713

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.908 AC: 37723 AN: 41542

American (AMR) AF: 0.610 AC: 9317 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.805 AC: 2793 AN: 3470

East Asian (EAS) AF: 0.716 AC: 3704 AN: 5174

South Asian (SAS) AF: 0.675 AC: 3258 AN: 4826

European-Finnish (FIN) AF: 0.706 AC: 7467 AN: 10582

Middle Eastern (MID) AF: 0.823 AC: 242 AN: 294

European-Non Finnish (NFE) AF: 0.748 AC: 50838 AN: 67996

Other (OTH) AF: 0.770 AC: 1630 AN: 2116

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
PhyloP100		-0.53

Splicing

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

Other links and lift over

dbSNP: rs988713; hg19: chr8-20041301;