rs10091038

Variant names:

• chr8-29502788-A-C
• rs10091038

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 0.573 in 151,992 control chromosomes in the GnomAD database, including 25,345 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 0.57 (25345 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.262

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 = 0.753 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: 0.573 AC: 87044 AN: 151874 Hom.: 25320 Cov.: 31

Gnomad AFR AF: 0.550

Gnomad AMI AF: 0.466

Gnomad AMR AF: 0.553

Gnomad ASJ AF: 0.519

Gnomad EAS AF: 0.773

Gnomad SAS AF: 0.675

Gnomad FIN AF: 0.650

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.562

Gnomad OTH AF: 0.556

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

GnomAD4 genome AF: 0.573 AC: 87116 AN: 151992 Hom.: 25345 Cov.: 31 AF XY: 0.577 AC XY: 42866 AN XY: 74290

Gnomad4 AFR AF: 0.550

Gnomad4 AMR AF: 0.553

Gnomad4 ASJ AF: 0.519

Gnomad4 EAS AF: 0.773

Gnomad4 SAS AF: 0.674

Gnomad4 FIN AF: 0.650

Gnomad4 NFE AF: 0.562

Gnomad4 OTH AF: 0.561

Alfa AF: 0.562 Hom.: 51730

Bravo AF: 0.559

Asia WGS AF: 0.699 AC: 2427 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	5.8
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10091038; hg19: chr8-29360305;