rs28913902

Positions:

• chr4-99322742-G-GA

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;