rs35117663

chr22-41695023-AAG-Achr22-41695023-AAG-AAGAG

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NR_160905.1(C22orf46P):n.1907_1908del variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)

Consequence

C22orf46P
NR_160905.1 non_coding_transcript_exon

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.892

Variant links:

Genes affected

C22orf46P (HGNC:26294): (chromosome 22 open reading frame 46, pseudogene) Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

C22orf46P links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
C22orf46P	NR_160905.1 linkuse as main transcript	n.1907_1908del		non_coding_transcript_exon_variant	4/4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
C22orf46P	ENST00000654032.1 linkuse as main transcript	n.1781_1782del		non_coding_transcript_exon_variant	2/2
C22orf46P	ENST00000656592.1 linkuse as main transcript	n.1905_1906del		non_coding_transcript_exon_variant	4/4

Frequencies

GnomAD3 genomes

Cov.:

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

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing