rs16902173

Variant names:

• chr8-127491754-A-G
• rs16902173

Your query was ambiguous. Multiple possible variants found:

• chr8-127491754-A-G
• chr8-127491754-A-T

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 0.114 in 152,190 control chromosomes in the GnomAD database, including 1,172 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 0.11 (1172 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.409

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.144 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: 0.114 AC: 17391 AN: 152072 Hom.: 1172 Cov.: 33

Gnomad AFR AF: 0.0527

Gnomad AMI AF: 0.0998

Gnomad AMR AF: 0.117

Gnomad ASJ AF: 0.193

Gnomad EAS AF: 0.112

Gnomad SAS AF: 0.0637

Gnomad FIN AF: 0.137

Gnomad MID AF: 0.190

Gnomad NFE AF: 0.147

Gnomad OTH AF: 0.145

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

GnomAD4 genome AF: 0.114 AC: 17390 AN: 152190 Hom.: 1172 Cov.: 33 AF XY: 0.112 AC XY: 8325 AN XY: 74396

Gnomad4 AFR AF: 0.0526

Gnomad4 AMR AF: 0.117

Gnomad4 ASJ AF: 0.193

Gnomad4 EAS AF: 0.113

Gnomad4 SAS AF: 0.0633

Gnomad4 FIN AF: 0.137

Gnomad4 NFE AF: 0.147

Gnomad4 OTH AF: 0.143

Alfa AF: 0.138 Hom.: 2341

Bravo AF: 0.111

Asia WGS AF: 0.0660 AC: 229 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.17
DANN	Benign	0.26

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs16902173; hg19: chr8-128503999;