rs10112296

Variant names:

• chr8-109173064-C-T
• rs10112296

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 0.327 in 152,078 control chromosomes in the GnomAD database, including 8,671 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 0.33 (8671 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.456 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: 0.327 AC: 49679 AN: 151960 Hom.: 8665 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.432

Gnomad ASJ AF: 0.198

Gnomad EAS AF: 0.470

Gnomad SAS AF: 0.430

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.327 AC: 49706 AN: 152078 Hom.: 8671 Cov.: 32 AF XY: 0.332 AC XY: 24711 AN XY: 74326

Gnomad4 AFR AF: 0.222

Gnomad4 AMR AF: 0.432

Gnomad4 ASJ AF: 0.198

Gnomad4 EAS AF: 0.471

Gnomad4 SAS AF: 0.429

Gnomad4 FIN AF: 0.393

Gnomad4 NFE AF: 0.343

Gnomad4 OTH AF: 0.313

Alfa AF: 0.345 Hom.: 1615

Bravo AF: 0.325

Asia WGS AF: 0.471 AC: 1638 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.43
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10112296; hg19: chr8-110185293;