rs8050326

chr16-86070536-G-Achr16-86070536-G-Cchr16-86070536-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;