rs7817477

Variant names:

• chr8-115921419-A-G
• rs7817477

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 0.157 in 152,156 control chromosomes in the GnomAD database, including 3,081 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 0.16 (3081 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.132

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.309 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: 0.157 AC: 23883 AN: 152038 Hom.: 3072 Cov.: 32

Gnomad AFR AF: 0.314

Gnomad AMI AF: 0.181

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.0573

Gnomad EAS AF: 0.115

Gnomad SAS AF: 0.162

Gnomad FIN AF: 0.0263

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0598

Gnomad OTH AF: 0.143

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

GnomAD4 genome AF: 0.157 AC: 23923 AN: 152156 Hom.: 3081 Cov.: 32 AF XY: 0.161 AC XY: 11950 AN XY: 74394

Gnomad4 AFR AF: 0.314

Gnomad4 AMR AF: 0.294

Gnomad4 ASJ AF: 0.0573

Gnomad4 EAS AF: 0.115

Gnomad4 SAS AF: 0.161

Gnomad4 FIN AF: 0.0263

Gnomad4 NFE AF: 0.0598

Gnomad4 OTH AF: 0.143

Alfa AF: 0.113 Hom.: 220

Bravo AF: 0.183

Asia WGS AF: 0.189 AC: 658 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.1
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7817477; hg19: chr8-116933644;