19-33818627-A-G

Variant names:

• chr19-33818627-A-G
• rs29941

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 0.696 in 152,104 control chromosomes in the GnomAD database, including 37,873 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 0.70 (37873 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0420
• Publications: 227 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.814 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: 0.696 AC: 105788 AN: 151986 Hom.: 37829 Cov.: 33

Gnomad AFR AF: 0.821

Gnomad AMI AF: 0.638

Gnomad AMR AF: 0.650

Gnomad ASJ AF: 0.742

Gnomad EAS AF: 0.235

Gnomad SAS AF: 0.614

Gnomad FIN AF: 0.611

Gnomad MID AF: 0.761

Gnomad NFE AF: 0.683

Gnomad OTH AF: 0.685

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

GnomAD4 genome AF: 0.696 AC: 105882 AN: 152104 Hom.: 37873 Cov.: 33 AF XY: 0.691 AC XY: 51361 AN XY: 74350

African (AFR) AF: 0.821 AC: 34088 AN: 41502

American (AMR) AF: 0.649 AC: 9934 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.742 AC: 2574 AN: 3468

East Asian (EAS) AF: 0.236 AC: 1215 AN: 5156

South Asian (SAS) AF: 0.613 AC: 2956 AN: 4824

European-Finnish (FIN) AF: 0.611 AC: 6451 AN: 10564

Middle Eastern (MID) AF: 0.771 AC: 225 AN: 292

European-Non Finnish (NFE) AF: 0.683 AC: 46427 AN: 67982

Other (OTH) AF: 0.679 AC: 1433 AN: 2112

Alfa AF: 0.674 Hom.: 124217

Bravo AF: 0.700

Asia WGS AF: 0.479 AC: 1665 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	3.6
DANN	Benign	0.49
PhyloP100		0.042

Splicing

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

Other links and lift over

dbSNP: rs29941; hg19: chr19-34309532;