rs33933747
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001080477.4(TENM3):c.233-66_233-62delAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000136 in 733,642 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000014 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
TENM3
NM_001080477.4 intron
NM_001080477.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.837
Genes affected
TENM3 (HGNC:29944): (teneurin transmembrane protein 3) This gene encodes a member of the teneurin transmembrane protein family. The encoded protein may be involved in the regulation of neuronal development including development of the visual pathway. Mutations in this gene have been associated with microphthalmia and developmental dysplasia of the hip. [provided by RefSeq, Jan 2023]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TENM3 | NM_001080477.4 | c.233-66_233-62delAAAAA | intron_variant | Intron 2 of 27 | ENST00000511685.6 | NP_001073946.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TENM3 | ENST00000511685.6 | c.233-75_233-71delAAAAA | intron_variant | Intron 2 of 27 | 5 | NM_001080477.4 | ENSP00000424226.1 | |||
TENM3 | ENST00000513201.1 | n.483-75_483-71delAAAAA | intron_variant | Intron 2 of 3 | 1 | |||||
TENM3 | ENST00000512480.5 | c.233-75_233-71delAAAAA | intron_variant | Intron 2 of 2 | 3 | ENSP00000421320.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 146432Hom.: 0 Cov.: 0 FAILED QC
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GnomAD4 exome AF: 0.00000136 AC: 1AN: 733642Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 366710
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GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 146432Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 71040
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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
Publications
No publications associated with this variant yet.