chr6-41032062-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_173561.3(UNC5CL):c.1025G>T(p.Arg342Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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. R342C) has been classified as Uncertain significance.
Frequency
Consequence
NM_173561.3 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 |
---|---|---|---|---|---|---|---|
UNC5CL | NM_173561.3 | c.1025G>T | p.Arg342Leu | missense_variant | 5/9 | ENST00000244565.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC5CL | ENST00000244565.8 | c.1025G>T | p.Arg342Leu | missense_variant | 5/9 | 1 | NM_173561.3 | P1 | |
UNC5CL | ENST00000373164.1 | c.1025G>T | p.Arg342Leu | missense_variant | 4/8 | 1 | P1 | ||
UNC5CL | ENST00000470102.1 | n.180G>T | non_coding_transcript_exon_variant | 2/5 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 25, 2022 | The c.1025G>T (p.R342L) alteration is located in exon 5 (coding exon 4) of the UNC5CL gene. This alteration results from a G to T substitution at nucleotide position 1025, causing the arginine (R) at amino acid position 342 to be replaced by a leucine (L). 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.