8-100795923-A-C

Variant names:

• chr8-100795923-A-C
• rs10464815

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 0.104 in 152,172 control chromosomes in the GnomAD database, including 1,134 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 0.10 (1134 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.374

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.303 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: 0.103 AC: 15732 AN: 152054 Hom.: 1126 Cov.: 31

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.0504

Gnomad AMR AF: 0.191

Gnomad ASJ AF: 0.0620

Gnomad EAS AF: 0.315

Gnomad SAS AF: 0.0820

Gnomad FIN AF: 0.0563

Gnomad MID AF: 0.0158

Gnomad NFE AF: 0.0561

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.104 AC: 15780 AN: 152172 Hom.: 1134 Cov.: 31 AF XY: 0.107 AC XY: 7988 AN XY: 74398

Gnomad4 AFR AF: 0.143

Gnomad4 AMR AF: 0.191

Gnomad4 ASJ AF: 0.0620

Gnomad4 EAS AF: 0.316

Gnomad4 SAS AF: 0.0825

Gnomad4 FIN AF: 0.0563

Gnomad4 NFE AF: 0.0561

Gnomad4 OTH AF: 0.109

Alfa AF: 0.0545 Hom.: 71

Bravo AF: 0.118

Asia WGS AF: 0.177 AC: 615 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10464815; hg19: chr8-101808151;