rs8050984

Variant names:

• chr16-77580224-C-T
• rs8050984

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 0.209 in 151,928 control chromosomes in the GnomAD database, including 4,004 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 0.21 (4004 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.44

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.345 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: 0.209 AC: 31704 AN: 151810 Hom.: 3995 Cov.: 31

Gnomad AFR AF: 0.350

Gnomad AMI AF: 0.215

Gnomad AMR AF: 0.183

Gnomad ASJ AF: 0.141

Gnomad EAS AF: 0.196

Gnomad SAS AF: 0.250

Gnomad FIN AF: 0.105

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.147

Gnomad OTH AF: 0.184

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

GnomAD4 genome AF: 0.209 AC: 31733 AN: 151928 Hom.: 4004 Cov.: 31 AF XY: 0.207 AC XY: 15397 AN XY: 74266

Gnomad4 AFR AF: 0.350

Gnomad4 AMR AF: 0.183

Gnomad4 ASJ AF: 0.141

Gnomad4 EAS AF: 0.196

Gnomad4 SAS AF: 0.250

Gnomad4 FIN AF: 0.105

Gnomad4 NFE AF: 0.147

Gnomad4 OTH AF: 0.187

Alfa AF: 0.174 Hom.: 510

Bravo AF: 0.219

Asia WGS AF: 0.274 AC: 953 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.079
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8050984; hg19: chr16-77614121;