3-176518922-C-CCACAGACGATGAGAAGAAACACATGATACCACTCAATCTGGCCCCTAACAGGCCACTTTTCACTTTACCAACATTCCAGTGGCTGCAGTAAATCACATGGTCAAGCTCAACATTTAGCAGGTGGGAAAATATACCTTCTTCAGTGGGTAGCACTGCAAAGTTGCATATCAAAAGACATGGATGCATAATTATAATACAAAAAGTCCATTGATGATTAAATGCAATGATTTAATCTACCTTAGCAGTATAATCAACTAAGAGGAGAGCAACATTTCCTATCTACATTTTCATACAAAATAGGGAAAGCAATCAGTTCTGCTCCTCATGGGATGAAGGGTAGGAACCT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The ENST00000652470.1(LINC01208):n.281-27516_281-27515insAGGTTCCTACCCTTCATCCCATGAGGAGCAGAACTGATTGCTTTCCCTATTTTGTATGAAAATGTAGATAGGAAATGTTGCTCTCCTCTTAGTTGATTATACTGCTAAGGTAGATTAAATCATTGCATTTAATCATCAATGGACTTTTTGTATTATAATTATGCATCCATGTCTTTTGATATGCAACTTTGCAGTGCTACCCACTGAAGAAGGTATATTTTCCCACCTGCTAAATGTTGAGCTTGACCATGTGATTTACTGCAGCCACTGGAATGTTGGTAAAGTGAAAAGTGGCCTGTTAGGGGCCAGATTGAGTGGTATCATGTGTTTCTTCTCATCGTCTGTG variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000652470.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC01208 | ENST00000652470.1 | n.281-27516_281-27515insAGGTTCCTACCCTTCATCCCATGAGGAGCAGAACTGATTGCTTTCCCTATTTTGTATGAAAATGTAGATAGGAAATGTTGCTCTCCTCTTAGTTGATTATACTGCTAAGGTAGATTAAATCATTGCATTTAATCATCAATGGACTTTTTGTATTATAATTATGCATCCATGTCTTTTGATATGCAACTTTGCAGTGCTACCCACTGAAGAAGGTATATTTTCCCACCTGCTAAATGTTGAGCTTGACCATGTGATTTACTGCAGCCACTGGAATGTTGGTAAAGTGAAAAGTGGCCTGTTAGGGGCCAGATTGAGTGGTATCATGTGTTTCTTCTCATCGTCTGTG | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Developmental cataract Benign:1
Likely benign, criteria provided, single submitter | research | Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania | Dec 01, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.