NM_017680.6:c.713-1131T>C
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_017680.6(ASPN):c.713-1128C>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
GnomAD MNV: 𝑓 N/A
Genomes: 𝑓 N/A ( N/A hom., cov: )
Exomes 𝑓: N/A ( N/A hom. )
Consequence
ASPN
NM_017680.6 intron
NM_017680.6 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
Publications
No publications found
Genes affected
ASPN (HGNC:14872): (asporin) This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
CENPP (HGNC:32933): (centromere protein P) CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| CENPP | ENST00000375587.8 | c.564+81836G>. | intron_variant | Intron 5 of 7 | 1 | NM_001012267.3 | ENSP00000364737.3 | |||
| ASPN | ENST00000375544.7 | c.713-1128C>. | intron_variant | Intron 5 of 7 | 1 | ENSP00000364694.3 | ||||
| ASPN | ENST00000375543.2 | c.712+3224C>. | intron_variant | Intron 5 of 5 | 2 | ENSP00000364693.1 | ||||
| ASPN | ENST00000650794.1 | n.388-1161C>. | intron_variant | Intron 3 of 5 | ENSP00000499088.1 |
Frequencies
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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