rs10503798

Variant names:

• chr8-26746306-A-G
• rs10503798

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 0.11 in 152,220 control chromosomes in the GnomAD database, including 1,222 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 0.11 (1222 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.51

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.206 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: 0.110 AC: 16692 AN: 152102 Hom.: 1225 Cov.: 32

Gnomad AFR AF: 0.210

Gnomad AMI AF: 0.0822

Gnomad AMR AF: 0.0817

Gnomad ASJ AF: 0.0664

Gnomad EAS AF: 0.0131

Gnomad SAS AF: 0.0568

Gnomad FIN AF: 0.0504

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0774

Gnomad OTH AF: 0.120

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

GnomAD4 genome AF: 0.110 AC: 16698 AN: 152220 Hom.: 1222 Cov.: 32 AF XY: 0.107 AC XY: 7954 AN XY: 74424

Gnomad4 AFR AF: 0.210

Gnomad4 AMR AF: 0.0816

Gnomad4 ASJ AF: 0.0664

Gnomad4 EAS AF: 0.0131

Gnomad4 SAS AF: 0.0569

Gnomad4 FIN AF: 0.0504

Gnomad4 NFE AF: 0.0773

Gnomad4 OTH AF: 0.119

Alfa AF: 0.0947 Hom.: 89

Bravo AF: 0.118

Asia WGS AF: 0.0550 AC: 192 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	13
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10503798; hg19: chr8-26603823;