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. The variant received -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
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.580 AC: 24079 AN: 41504

American (AMR) AF: 0.498 AC: 7604 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.380 AC: 1318 AN: 3472

East Asian (EAS) AF: 0.734 AC: 3791 AN: 5168

South Asian (SAS) AF: 0.418 AC: 2014 AN: 4820

European-Finnish (FIN) AF: 0.448 AC: 4736 AN: 10574

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.427 AC: 29021 AN: 67938

Other (OTH) AF: 0.489 AC: 1034 AN: 2114

Alfa AF: 0.443 Hom.: 31489

Bravo AF: 0.498

Asia WGS AF: 0.557 AC: 1935 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.76
DANN	Benign	0.38
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs8050326; hg19: chr16-86104142;