rs10505218

Variant names:

• chr8-114490872-G-A
• rs10505218

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 0.0417 in 151,764 control chromosomes in the GnomAD database, including 271 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 0.042 (271 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00800

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 (AFR) allele frequency at 95% confidence interval = 0.0954 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0416 AC: 6301 AN: 151646 Hom.: 265 Cov.: 32

Gnomad AFR AF: 0.0976

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0493

Gnomad ASJ AF: 0.0179

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0135

Gnomad FIN AF: 0.0269

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.0149

Gnomad OTH AF: 0.0431

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

GnomAD4 genome AF: 0.0417 AC: 6336 AN: 151764 Hom.: 271 Cov.: 32 AF XY: 0.0420 AC XY: 3117 AN XY: 74212

Gnomad4 AFR AF: 0.0980

Gnomad4 AMR AF: 0.0497

Gnomad4 ASJ AF: 0.0179

Gnomad4 EAS AF: 0.000579

Gnomad4 SAS AF: 0.0135

Gnomad4 FIN AF: 0.0269

Gnomad4 NFE AF: 0.0150

Gnomad4 OTH AF: 0.0427

Alfa AF: 0.0320 Hom.: 19

Bravo AF: 0.0448

Asia WGS AF: 0.0140 AC: 47 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.3
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10505218; hg19: chr8-115503101;