rs10503798

Positions:

• chr8-26746306-A-G

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;