8-115404761-C-G

Variant names:

• chr8-115404761-C-G
• rs231146

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.515 in 151,850 control chromosomes in the GnomAD database, including 20,457 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 0.52 (20457 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.701
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.587 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: 0.515 AC: 78161 AN: 151732 Hom.: 20412 Cov.: 31

Gnomad AFR AF: 0.593

Gnomad AMI AF: 0.576

Gnomad AMR AF: 0.474

Gnomad ASJ AF: 0.396

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.553

Gnomad FIN AF: 0.410

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.497

Gnomad OTH AF: 0.478

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

GnomAD4 genome AF: 0.515 AC: 78268 AN: 151850 Hom.: 20457 Cov.: 31 AF XY: 0.511 AC XY: 37923 AN XY: 74216

African (AFR) AF: 0.593 AC: 24576 AN: 41418

American (AMR) AF: 0.475 AC: 7233 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.396 AC: 1374 AN: 3468

East Asian (EAS) AF: 0.529 AC: 2710 AN: 5124

South Asian (SAS) AF: 0.554 AC: 2671 AN: 4820

European-Finnish (FIN) AF: 0.410 AC: 4325 AN: 10560

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.497 AC: 33740 AN: 67906

Other (OTH) AF: 0.475 AC: 1005 AN: 2114

Alfa AF: 0.508 Hom.: 2436

Bravo AF: 0.525

Asia WGS AF: 0.536 AC: 1864 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.59
DANN	Benign	0.34
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs231146; hg19: chr8-116416989;