rs16851

Variant names:

• chr10-58313830-T-C
• rs16851

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 0.038 in 152,254 control chromosomes in the GnomAD database, including 202 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 0.038 (202 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0150

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 = 0.0875 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: 0.0379 AC: 5768 AN: 152136 Hom.: 202 Cov.: 32

Gnomad AFR AF: 0.0899

Gnomad AMI AF: 0.0428

Gnomad AMR AF: 0.0204

Gnomad ASJ AF: 0.0271

Gnomad EAS AF: 0.000577

Gnomad SAS AF: 0.0499

Gnomad FIN AF: 0.00188

Gnomad MID AF: 0.0285

Gnomad NFE AF: 0.0185

Gnomad OTH AF: 0.0339

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

GnomAD4 genome AF: 0.0380 AC: 5780 AN: 152254 Hom.: 202 Cov.: 32 AF XY: 0.0382 AC XY: 2841 AN XY: 74458

Gnomad4 AFR AF: 0.0899

Gnomad4 AMR AF: 0.0204

Gnomad4 ASJ AF: 0.0271

Gnomad4 EAS AF: 0.000578

Gnomad4 SAS AF: 0.0495

Gnomad4 FIN AF: 0.00188

Gnomad4 NFE AF: 0.0185

Gnomad4 OTH AF: 0.0336

Alfa AF: 0.0272 Hom.: 21

Bravo AF: 0.0405

Asia WGS AF: 0.0350 AC: 121 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	13
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs16851; hg19: chr10-60073590;