8-18415790-G-C

Variant names:

• chr8-18415790-G-C
• rs1495743

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 0.709 in 152,080 control chromosomes in the GnomAD database, including 38,808 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 (38808 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 36 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.769 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.709 AC: 107759 AN: 151960 Hom.: 38800 Cov.: 32

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.717

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.461

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: 0.709 AC: 107812 AN: 152080 Hom.: 38808 Cov.: 32 AF XY: 0.706 AC XY: 52478 AN XY: 74336

African (AFR) AF: 0.621 AC: 25748 AN: 41474

American (AMR) AF: 0.662 AC: 10127 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.832 AC: 2888 AN: 3472

East Asian (EAS) AF: 0.461 AC: 2378 AN: 5154

South Asian (SAS) AF: 0.773 AC: 3729 AN: 4822

European-Finnish (FIN) AF: 0.746 AC: 7898 AN: 10586

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.774 AC: 52617 AN: 67964

Other (OTH) AF: 0.731 AC: 1540 AN: 2108

Alfa AF: 0.748 Hom.: 21039

Bravo AF: 0.695

Asia WGS AF: 0.643 AC: 2236 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.31
DANN	Benign	0.59
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs1495743; hg19: chr8-18273300;