rs8045253

Variant names:

• chr16-86404161-T-C
• rs8045253

Your query was ambiguous. Multiple possible variants found:

• chr16-86404161-T-C
• chr16-86404161-T-G

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 0.329 in 152,086 control chromosomes in the GnomAD database, including 8,476 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 0.33 (8476 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.366 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: 0.329 AC: 50007 AN: 151968 Hom.: 8481 Cov.: 32

Gnomad AFR AF: 0.267

Gnomad AMI AF: 0.323

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.511

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.321

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.369

Gnomad OTH AF: 0.380

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

GnomAD4 genome AF: 0.329 AC: 50019 AN: 152086 Hom.: 8476 Cov.: 32 AF XY: 0.323 AC XY: 23999 AN XY: 74368

African (AFR) AF: 0.267 AC: 11071 AN: 41476

American (AMR) AF: 0.293 AC: 4482 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.511 AC: 1773 AN: 3468

East Asian (EAS) AF: 0.363 AC: 1872 AN: 5160

South Asian (SAS) AF: 0.222 AC: 1069 AN: 4822

European-Finnish (FIN) AF: 0.321 AC: 3399 AN: 10574

Middle Eastern (MID) AF: 0.503 AC: 148 AN: 294

European-Non Finnish (NFE) AF: 0.369 AC: 25110 AN: 67974

Other (OTH) AF: 0.379 AC: 801 AN: 2112

Alfa AF: 0.363 Hom.: 19276

Bravo AF: 0.328

Asia WGS AF: 0.324 AC: 1127 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.2
DANN	Benign	0.35
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs8045253; hg19: chr16-86437767;