rs1481650

Variant names:

• chr8-26915994-A-C
• rs1481650

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 0.282 in 152,052 control chromosomes in the GnomAD database, including 6,261 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 0.28 (6261 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.38 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: 0.282 AC: 42775 AN: 151934 Hom.: 6255 Cov.: 32

Gnomad AFR AF: 0.385

Gnomad AMI AF: 0.346

Gnomad AMR AF: 0.262

Gnomad ASJ AF: 0.286

Gnomad EAS AF: 0.271

Gnomad SAS AF: 0.252

Gnomad FIN AF: 0.205

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.237

Gnomad OTH AF: 0.256

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

GnomAD4 genome AF: 0.282 AC: 42803 AN: 152052 Hom.: 6261 Cov.: 32 AF XY: 0.282 AC XY: 20946 AN XY: 74336

African (AFR) AF: 0.385 AC: 15964 AN: 41468

American (AMR) AF: 0.262 AC: 4004 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.286 AC: 993 AN: 3472

East Asian (EAS) AF: 0.271 AC: 1400 AN: 5162

South Asian (SAS) AF: 0.253 AC: 1216 AN: 4804

European-Finnish (FIN) AF: 0.205 AC: 2174 AN: 10596

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.237 AC: 16106 AN: 67946

Other (OTH) AF: 0.253 AC: 536 AN: 2116

Alfa AF: 0.252 Hom.: 6375

Bravo AF: 0.292

Asia WGS AF: 0.254 AC: 884 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.036
DANN	Benign	0.34
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs1481650; hg19: chr8-26773511;