chr8-18415371-G-A

Position:

• chr8-18415371-G-A

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 0.708 in 152,126 control chromosomes in the GnomAD database, including 38,759 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 0.71 (38759 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.207

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.768 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.708 AC: 107697 AN: 152008 Hom.: 38756 Cov.: 32

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.717

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.459

Gnomad SAS AF: 0.774

Gnomad FIN AF: 0.746

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.774

Gnomad OTH AF: 0.731

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

GnomAD4 genome AF: 0.708 AC: 107743 AN: 152126 Hom.: 38759 Cov.: 32 AF XY: 0.705 AC XY: 52441 AN XY: 74360

Gnomad4 AFR AF: 0.620

Gnomad4 AMR AF: 0.661

Gnomad4 ASJ AF: 0.832

Gnomad4 EAS AF: 0.460

Gnomad4 SAS AF: 0.773

Gnomad4 FIN AF: 0.746

Gnomad4 NFE AF: 0.774

Gnomad4 OTH AF: 0.729

Alfa AF: 0.756 Hom.: 100876

Bravo AF: 0.693

Asia WGS AF: 0.627 AC: 2180 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.8
DANN	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1495741; hg19: chr8-18272881;