chr6-41034918-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173561.3(UNC5CL):c.157G>A(p.Val53Met) 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. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173561.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UNC5CL | ENST00000244565.8 | c.157G>A | p.Val53Met | missense_variant | Exon 2 of 9 | 1 | NM_173561.3 | ENSP00000244565.3 | ||
UNC5CL | ENST00000373164.1 | c.157G>A | p.Val53Met | missense_variant | Exon 1 of 8 | 1 | ENSP00000362258.1 | |||
OARD1 | ENST00000482853.5 | n.*230G>A | non_coding_transcript_exon_variant | Exon 4 of 5 | 2 | ENSP00000420472.1 | ||||
OARD1 | ENST00000482853.5 | n.*230G>A | 3_prime_UTR_variant | Exon 4 of 5 | 2 | ENSP00000420472.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.157G>A (p.V53M) alteration is located in exon 2 (coding exon 1) of the UNC5CL gene. This alteration results from a G to A substitution at nucleotide position 157, causing the valine (V) at amino acid position 53 to be replaced by a methionine (M). 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.