22-20594216-G-GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA

Variant names:

• chr22-20594216-G-GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGA
• rs361625

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: CCDC74BP1 intragenic
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0610
• Publications: 0 publications found

Genes affected

CCDC74BP1 (HGNC:51917): (coiled-coil domain containing 74B pseudogene 1)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CCDC74BP1		n.20594217_20594218insAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAA		intragenic_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.061

Splicing

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

Other links and lift over

dbSNP: rs361625; hg19: chr22-20948503;