8-18323560-A-G

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 0.385 in 151,962 control chromosomes in the GnomAD database, including 12,175 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 0.39 (12175 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.447

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.515 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: 0.385 AC: 58488 AN: 151844 Hom.: 12174 Cov.: 31

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.596

Gnomad AMR AF: 0.475

Gnomad ASJ AF: 0.399

Gnomad EAS AF: 0.456

Gnomad SAS AF: 0.533

Gnomad FIN AF: 0.458

Gnomad MID AF: 0.472

Gnomad NFE AF: 0.435

Gnomad OTH AF: 0.423

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

GnomAD4 genome AF: 0.385 AC: 58506 AN: 151962 Hom.: 12175 Cov.: 31 AF XY: 0.391 AC XY: 29053 AN XY: 74268

Gnomad4 AFR AF: 0.217

Gnomad4 AMR AF: 0.476

Gnomad4 ASJ AF: 0.399

Gnomad4 EAS AF: 0.457

Gnomad4 SAS AF: 0.532

Gnomad4 FIN AF: 0.458

Gnomad4 NFE AF: 0.435

Gnomad4 OTH AF: 0.423

Alfa AF: 0.424 Hom.: 12895

Bravo AF: 0.380

Asia WGS AF: 0.458 AC: 1591 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
Cadd	Benign	0.91
Dann	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12541267; hg19: chr8-18181069;