rs10516452

Variant names:

• chr4-99708552-C-G
• rs10516452

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 0.0799 in 152,074 control chromosomes in the GnomAD database, including 833 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 0.080 (833 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.373

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.183 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: 0.0796 AC: 12096 AN: 151956 Hom.: 824 Cov.: 32

Gnomad AFR AF: 0.161

Gnomad AMI AF: 0.0121

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.0234

Gnomad EAS AF: 0.193

Gnomad SAS AF: 0.0446

Gnomad FIN AF: 0.0155

Gnomad MID AF: 0.0475

Gnomad NFE AF: 0.0284

Gnomad OTH AF: 0.0676

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

GnomAD4 genome AF: 0.0799 AC: 12146 AN: 152074 Hom.: 833 Cov.: 32 AF XY: 0.0798 AC XY: 5934 AN XY: 74342

Gnomad4 AFR AF: 0.162

Gnomad4 AMR AF: 0.124

Gnomad4 ASJ AF: 0.0234

Gnomad4 EAS AF: 0.193

Gnomad4 SAS AF: 0.0446

Gnomad4 FIN AF: 0.0155

Gnomad4 NFE AF: 0.0284

Gnomad4 OTH AF: 0.0712

Alfa AF: 0.0521 Hom.: 56

Bravo AF: 0.0914

Asia WGS AF: 0.113 AC: 392 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.7
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10516452; hg19: chr4-100629709;