rs8051754

Variant names:

• chr16-79963436-G-A
• rs8051754

Your query was ambiguous. Multiple possible variants found:

• chr16-79963436-G-A
• chr16-79963436-G-C
• chr16-79963436-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 0.715 in 152,110 control chromosomes in the GnomAD database, including 39,133 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 0.71 (39133 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00400
• Publications: 2 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 (AMR) allele frequency at 95% confidence interval = 0.782 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: 0.715 AC: 108627 AN: 151992 Hom.: 39106 Cov.: 32

Gnomad AFR AF: 0.638

Gnomad AMI AF: 0.727

Gnomad AMR AF: 0.794

Gnomad ASJ AF: 0.807

Gnomad EAS AF: 0.622

Gnomad SAS AF: 0.756

Gnomad FIN AF: 0.741

Gnomad MID AF: 0.753

Gnomad NFE AF: 0.738

Gnomad OTH AF: 0.739

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

GnomAD4 genome AF: 0.715 AC: 108710 AN: 152110 Hom.: 39133 Cov.: 32 AF XY: 0.715 AC XY: 53190 AN XY: 74346

African (AFR) AF: 0.638 AC: 26464 AN: 41496

American (AMR) AF: 0.794 AC: 12146 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.807 AC: 2802 AN: 3470

East Asian (EAS) AF: 0.622 AC: 3198 AN: 5144

South Asian (SAS) AF: 0.757 AC: 3645 AN: 4816

European-Finnish (FIN) AF: 0.741 AC: 7842 AN: 10584

Middle Eastern (MID) AF: 0.745 AC: 219 AN: 294

European-Non Finnish (NFE) AF: 0.738 AC: 50169 AN: 67986

Other (OTH) AF: 0.739 AC: 1562 AN: 2114

Alfa AF: 0.736 Hom.: 31268

Bravo AF: 0.715

Asia WGS AF: 0.695 AC: 2415 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.1
DANN	Benign	0.34
PhyloP100		-0.0040

Splicing

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

Other links and lift over

dbSNP: rs8051754; hg19: chr16-79997333;