rs10091038

Positions:

• chr8-29502788-A-C

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;