rs4805877

Variant names:

• chr19-33385488-A-G
• rs4805877

Your query was ambiguous. Multiple possible variants found:

• chr19-33385488-A-G
• chr19-33385488-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.485 in 152,130 control chromosomes in the GnomAD database, including 18,999 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 0.48 (18999 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00900

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.661 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: 0.485 AC: 73705 AN: 152012 Hom.: 18971 Cov.: 33

Gnomad AFR AF: 0.668

Gnomad AMI AF: 0.429

Gnomad AMR AF: 0.454

Gnomad ASJ AF: 0.358

Gnomad EAS AF: 0.372

Gnomad SAS AF: 0.370

Gnomad FIN AF: 0.474

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.407

Gnomad OTH AF: 0.475

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

GnomAD4 genome AF: 0.485 AC: 73775 AN: 152130 Hom.: 18999 Cov.: 33 AF XY: 0.485 AC XY: 36094 AN XY: 74378

Gnomad4 AFR AF: 0.668

Gnomad4 AMR AF: 0.455

Gnomad4 ASJ AF: 0.358

Gnomad4 EAS AF: 0.372

Gnomad4 SAS AF: 0.370

Gnomad4 FIN AF: 0.474

Gnomad4 NFE AF: 0.407

Gnomad4 OTH AF: 0.470

Alfa AF: 0.418 Hom.: 20101

Bravo AF: 0.494

Asia WGS AF: 0.378 AC: 1318 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.4
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4805877; hg19: chr19-33876394;