rs8050940

Variant names:

• chr16-62066307-T-C
• rs8050940

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 0.092 in 152,156 control chromosomes in the GnomAD database, including 1,604 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 0.092 (1604 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.216

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.27 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: 0.0915 AC: 13919 AN: 152038 Hom.: 1584 Cov.: 32

Gnomad AFR AF: 0.274

Gnomad AMI AF: 0.0504

Gnomad AMR AF: 0.0387

Gnomad ASJ AF: 0.0112

Gnomad EAS AF: 0.0400

Gnomad SAS AF: 0.0360

Gnomad FIN AF: 0.0181

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0178

Gnomad OTH AF: 0.0674

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

GnomAD4 genome AF: 0.0920 AC: 13991 AN: 152156 Hom.: 1604 Cov.: 32 AF XY: 0.0900 AC XY: 6696 AN XY: 74414

Gnomad4 AFR AF: 0.275

Gnomad4 AMR AF: 0.0386

Gnomad4 ASJ AF: 0.0112

Gnomad4 EAS AF: 0.0403

Gnomad4 SAS AF: 0.0354

Gnomad4 FIN AF: 0.0181

Gnomad4 NFE AF: 0.0178

Gnomad4 OTH AF: 0.0662

Alfa AF: 0.0307 Hom.: 394

Bravo AF: 0.102

Asia WGS AF: 0.0580 AC: 202 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	0.46
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8050940; hg19: chr16-62100211;