rs10505218

chr8-114490872-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 0.0417 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;