rs8050326

Variant names:

• chr16-86070536-G-A
• rs8050326

Your query was ambiguous. Multiple possible variants found:

• chr16-86070536-G-A
• chr16-86070536-G-C
• chr16-86070536-G-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 0.487 in 152,072 control chromosomes in the GnomAD database, including 18,393 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 0.49 (18393 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.78

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 (EAS) allele frequency at 95% confidence interval = 0.714 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: 0.487 AC: 73932 AN: 151952 Hom.: 18364 Cov.: 33

Gnomad AFR AF: 0.580

Gnomad AMI AF: 0.340

Gnomad AMR AF: 0.497

Gnomad ASJ AF: 0.380

Gnomad EAS AF: 0.733

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.448

Gnomad MID AF: 0.363

Gnomad NFE AF: 0.427

Gnomad OTH AF: 0.485

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

GnomAD4 genome AF: 0.487 AC: 74012 AN: 152072 Hom.: 18393 Cov.: 33 AF XY: 0.488 AC XY: 36313 AN XY: 74350

Gnomad4 AFR AF: 0.580

Gnomad4 AMR AF: 0.498

Gnomad4 ASJ AF: 0.380

Gnomad4 EAS AF: 0.734

Gnomad4 SAS AF: 0.418

Gnomad4 FIN AF: 0.448

Gnomad4 NFE AF: 0.427

Gnomad4 OTH AF: 0.489

Alfa AF: 0.435 Hom.: 19769

Bravo AF: 0.498

Asia WGS AF: 0.557 AC: 1935 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	0.76
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8050326; hg19: chr16-86104142;