rs5842674
Positions:
- chr21-18090726-GAAAA-G
- chr21-18090726-GAAAAA-G
- chr21-18090726-GAAAAAA-G
- chr21-18090726-G-GAAAA
- chr21-18090726-G-GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAAATAAAAATTTAAAAATTTAAGAAAATTCATATTATAATTTCAAAAAA
- chr21-18090726-G-GAAAAAAA
- chr21-18090726-G-GAAAAAAAA
- chr21-18090726-GAAAAAAAAAAAA-G
- chr21-18090726-GAAA-G
- chr21-18090726-GAA-G
- chr21-18090726-G-GAAAAAA
- chr21-18090726-G-GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAACTAAAAAAATTCAAAAAACTTGCTCTTATAATTTCCA
- chr21-18090726-GAAAAAAA-G
- chr21-18090726-G-GAAA
- chr21-18090726-G-GAA
- chr21-18090726-G-GAAAAA
- chr21-18090726-GAAAAAAAA-G
- chr21-18090726-GA-G
- chr21-18090726-G-GAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr21-18090726-G-GA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The ENST00000400131.5(CHODL):c.-44-165766_-44-165763del variant causes a intron 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: 𝑓 0.000040 ( 0 hom., cov: 0)
Consequence
CHODL
ENST00000400131.5 intron
ENST00000400131.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.852
Genes affected
CHODL (HGNC:17807): (chondrolectin) This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
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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 |
---|---|---|---|---|---|---|---|
CHODL | NM_001204175.2 | c.-44-165766_-44-165763del | intron_variant | ||||
CHODL | NM_001204176.2 | c.-45+62772_-45+62775del | intron_variant | ||||
CHODL | NM_001204177.2 | c.-44-165766_-44-165763del | intron_variant | ||||
CHODL | NM_001204178.2 | c.-45+62772_-45+62775del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000432412.1 | n.224+9203_224+9206del | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000399 AC: 5AN: 125180Hom.: 0 Cov.: 0
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GnomAD4 genome ? AF: 0.0000399 AC: 5AN: 125164Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 59460
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at