8-11483620-G-C

Position:

• chr8-11483620-G-C

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 0.725 in 152,144 control chromosomes in the GnomAD database, including 40,469 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 0.72 (40469 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.824 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: 0.725 AC: 110144 AN: 152024 Hom.: 40414 Cov.: 32

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.601

Gnomad AMR AF: 0.776

Gnomad ASJ AF: 0.735

Gnomad EAS AF: 0.729

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.550

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.676

Gnomad OTH AF: 0.729

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

GnomAD4 genome AF: 0.725 AC: 110263 AN: 152144 Hom.: 40469 Cov.: 32 AF XY: 0.720 AC XY: 53566 AN XY: 74382

Gnomad4 AFR AF: 0.831

Gnomad4 AMR AF: 0.776

Gnomad4 ASJ AF: 0.735

Gnomad4 EAS AF: 0.730

Gnomad4 SAS AF: 0.717

Gnomad4 FIN AF: 0.550

Gnomad4 NFE AF: 0.676

Gnomad4 OTH AF: 0.732

Alfa AF: 0.698 Hom.: 4399

Bravo AF: 0.746

Asia WGS AF: 0.765 AC: 2661 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.66
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2254891; hg19: chr8-11341129;