rs8044354

Variant names:

• chr16-50684436-A-G
• rs8044354

Your query was ambiguous. Multiple possible variants found:

• chr16-50684436-A-G
• chr16-50684436-A-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 0.749 in 152,244 control chromosomes in the GnomAD database, including 44,012 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 0.75 (44012 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.105
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.867 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: 0.749 AC: 113983 AN: 152126 Hom.: 43967 Cov.: 33

Gnomad AFR AF: 0.875

Gnomad AMI AF: 0.766

Gnomad AMR AF: 0.648

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.318

Gnomad SAS AF: 0.506

Gnomad FIN AF: 0.724

Gnomad MID AF: 0.741

Gnomad NFE AF: 0.746

Gnomad OTH AF: 0.732

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

GnomAD4 genome AF: 0.749 AC: 114080 AN: 152244 Hom.: 44012 Cov.: 33 AF XY: 0.741 AC XY: 55129 AN XY: 74428

African (AFR) AF: 0.875 AC: 36353 AN: 41546

American (AMR) AF: 0.648 AC: 9917 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.832 AC: 2887 AN: 3472

East Asian (EAS) AF: 0.318 AC: 1648 AN: 5176

South Asian (SAS) AF: 0.506 AC: 2437 AN: 4820

European-Finnish (FIN) AF: 0.724 AC: 7672 AN: 10594

Middle Eastern (MID) AF: 0.731 AC: 215 AN: 294

European-Non Finnish (NFE) AF: 0.746 AC: 50719 AN: 68016

Other (OTH) AF: 0.727 AC: 1533 AN: 2108

Alfa AF: 0.709 Hom.: 6598

Bravo AF: 0.748

Asia WGS AF: 0.445 AC: 1550 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.6
DANN	Benign	0.53
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs8044354; hg19: chr16-50718347;