11-5515511-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_145053.5(UBQLNL):c.931C>A(p.Pro311Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145053.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBQLNL | ENST00000380184.2 | c.931C>A | p.Pro311Thr | missense_variant | Exon 1 of 1 | 6 | NM_145053.5 | ENSP00000369531.1 | ||
ENSG00000239920 | ENST00000380259.7 | n.*739+75314C>A | intron_variant | Intron 5 of 7 | 5 | ENSP00000369609.3 | ||||
UBQLNL | ENST00000673910.1 | c.901C>A | p.Pro301Thr | missense_variant | Exon 2 of 2 | ENSP00000501246.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 92
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.931C>A (p.P311T) alteration is located in exon 1 (coding exon 1) of the UBQLNL gene. This alteration results from a C to A substitution at nucleotide position 931, causing the proline (P) at amino acid position 311 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.