rs28913902

Variant names:

• chr4-99322742-G-GA
• rs28913902

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.83 (53034 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.227

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.901 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: 0.834 AC: 126799 AN: 152030 Hom.: 52980 Cov.: 0

Gnomad AFR AF: 0.891

Gnomad AMI AF: 0.897

Gnomad AMR AF: 0.837

Gnomad ASJ AF: 0.783

Gnomad EAS AF: 0.923

Gnomad SAS AF: 0.785

Gnomad FIN AF: 0.805

Gnomad MID AF: 0.753

Gnomad NFE AF: 0.802

Gnomad OTH AF: 0.834

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

GnomAD4 genome AF: 0.834 AC: 126905 AN: 152148 Hom.: 53034 Cov.: 0 AF XY: 0.834 AC XY: 62011 AN XY: 74358

Gnomad4 AFR AF: 0.891

Gnomad4 AMR AF: 0.837

Gnomad4 ASJ AF: 0.783

Gnomad4 EAS AF: 0.923

Gnomad4 SAS AF: 0.786

Gnomad4 FIN AF: 0.805

Gnomad4 NFE AF: 0.802

Gnomad4 OTH AF: 0.831

Alfa AF: 0.823 Hom.: 5521

Bravo AF: 0.839

Asia WGS AF: 0.825 AC: 2869 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs28913902; hg19: chr4-100243899;