rs8088001

chr18-287705-T-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 0.137 in 152,108 control chromosomes in the GnomAD database, including 2,121 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 0.14 (2121 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.190

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.275 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: 0.137 AC: 20791 AN: 151990 Hom.: 2118 Cov.: 32

Gnomad AFR AF: 0.280

Gnomad AMI AF: 0.0219

Gnomad AMR AF: 0.0786

Gnomad ASJ AF: 0.0900

Gnomad EAS AF: 0.0410

Gnomad SAS AF: 0.160

Gnomad FIN AF: 0.118

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.0757

Gnomad OTH AF: 0.136

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

GnomAD4 genome AF: 0.137 AC: 20825 AN: 152108 Hom.: 2121 Cov.: 32 AF XY: 0.140 AC XY: 10395 AN XY: 74372

Gnomad4 AFR AF: 0.280

Gnomad4 AMR AF: 0.0785

Gnomad4 ASJ AF: 0.0900

Gnomad4 EAS AF: 0.0413

Gnomad4 SAS AF: 0.160

Gnomad4 FIN AF: 0.118

Gnomad4 NFE AF: 0.0757

Gnomad4 OTH AF: 0.135

Alfa AF: 0.0888 Hom.: 1080

Bravo AF: 0.139

Asia WGS AF: 0.106 AC: 368 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
Cadd	Benign	5.0
Dann	Benign	0.22

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8088001; hg19: chr18-287705;