chr2-209773107-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001371986.1(UNC80):c.106C>A(p.Pro36Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P36A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001371986.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC80 | NM_001371986.1 | c.106C>A | p.Pro36Thr | missense_variant | 2/65 | ENST00000673920.1 | |
UNC80 | NM_032504.2 | c.106C>A | p.Pro36Thr | missense_variant | 2/64 | ||
UNC80 | NM_182587.4 | c.106C>A | p.Pro36Thr | missense_variant | 2/63 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC80 | ENST00000673920.1 | c.106C>A | p.Pro36Thr | missense_variant | 2/65 | NM_001371986.1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 20, 2023 | The c.106C>A (p.P36T) alteration is located in exon 2 (coding exon 2) of the UNC80 gene. This alteration results from a C to A substitution at nucleotide position 106, causing the proline (P) at amino acid position 36 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.