chr16-8160215-T-G

Variant names:

• chr16-8160215-T-G
• rs9332429

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 0.337 in 152,010 control chromosomes in the GnomAD database, including 9,188 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 0.34 (9188 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.721

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.578 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: 0.337 AC: 51213 AN: 151892 Hom.: 9167 Cov.: 33

Gnomad AFR AF: 0.336

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.455

Gnomad ASJ AF: 0.275

Gnomad EAS AF: 0.595

Gnomad SAS AF: 0.281

Gnomad FIN AF: 0.266

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.310

Gnomad OTH AF: 0.356

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

GnomAD4 genome AF: 0.337 AC: 51284 AN: 152010 Hom.: 9188 Cov.: 33 AF XY: 0.338 AC XY: 25122 AN XY: 74290

Gnomad4 AFR AF: 0.336

Gnomad4 AMR AF: 0.456

Gnomad4 ASJ AF: 0.275

Gnomad4 EAS AF: 0.595

Gnomad4 SAS AF: 0.281

Gnomad4 FIN AF: 0.266

Gnomad4 NFE AF: 0.310

Gnomad4 OTH AF: 0.359

Alfa AF: 0.188 Hom.: 362

Bravo AF: 0.357

Asia WGS AF: 0.450 AC: 1565 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.82
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9332429; hg19: chr16-8210217;