rs309850

Variant names:

• chr8-30015821-T-A
• rs309850

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 0.314 in 151,814 control chromosomes in the GnomAD database, including 8,233 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 0.31 (8233 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.128
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.459 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: 0.314 AC: 47674 AN: 151696 Hom.: 8213 Cov.: 31

Gnomad AFR AF: 0.464

Gnomad AMI AF: 0.205

Gnomad AMR AF: 0.238

Gnomad ASJ AF: 0.251

Gnomad EAS AF: 0.346

Gnomad SAS AF: 0.159

Gnomad FIN AF: 0.315

Gnomad MID AF: 0.264

Gnomad NFE AF: 0.254

Gnomad OTH AF: 0.306

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

GnomAD4 genome AF: 0.314 AC: 47723 AN: 151814 Hom.: 8233 Cov.: 31 AF XY: 0.314 AC XY: 23278 AN XY: 74164

African (AFR) AF: 0.464 AC: 19190 AN: 41348

American (AMR) AF: 0.238 AC: 3627 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.251 AC: 873 AN: 3472

East Asian (EAS) AF: 0.346 AC: 1787 AN: 5160

South Asian (SAS) AF: 0.158 AC: 763 AN: 4818

European-Finnish (FIN) AF: 0.315 AC: 3302 AN: 10466

Middle Eastern (MID) AF: 0.253 AC: 74 AN: 292

European-Non Finnish (NFE) AF: 0.254 AC: 17271 AN: 67980

Other (OTH) AF: 0.307 AC: 649 AN: 2112

Alfa AF: 0.278 Hom.: 784

Bravo AF: 0.321

Asia WGS AF: 0.230 AC: 799 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	4.6
DANN	Benign	0.76
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs309850; hg19: chr8-29873337;