3-150927631-TACACACACACACACAC-TACACACACACACACACACACACACAC
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_174878.3(CLRN1):c.*295_*304dupGTGTGTGTGT variant causes a 3 prime UTR 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)
Exomes 𝑓: 0.0000031 ( 0 hom. )
Consequence
CLRN1
NM_174878.3 3_prime_UTR
NM_174878.3 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.454
Genes affected
CLRN1 (HGNC:12605): (clarin 1) This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLRN1 | ENST00000327047 | c.*295_*304dupGTGTGTGTGT | 3_prime_UTR_variant | Exon 3 of 3 | 1 | NM_174878.3 | ENSP00000322280.1 | |||
ENSG00000260234 | ENST00000569170.5 | n.160+13941_160+13950dupGTGTGTGTGT | intron_variant | Intron 1 of 10 | 1 | ENSP00000457784.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 0.00000308 AC: 1AN: 324594Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 181460
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GnomAD4 genome Cov.: 0
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0
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.