chr10-71284731-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_170744.5(UNC5B):c.316C>T(p.Arg106Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,613,698 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R106H) has been classified as Uncertain significance.
Frequency
Consequence
NM_170744.5 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 |
---|---|---|---|---|---|---|---|
UNC5B | NM_170744.5 | c.316C>T | p.Arg106Cys | missense_variant | 3/17 | ENST00000335350.10 | |
UNC5B | NM_001244889.2 | c.316C>T | p.Arg106Cys | missense_variant | 3/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC5B | ENST00000335350.10 | c.316C>T | p.Arg106Cys | missense_variant | 3/17 | 1 | NM_170744.5 | P4 | |
UNC5B | ENST00000373192.4 | c.316C>T | p.Arg106Cys | missense_variant | 3/16 | 1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152152Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250506Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135458
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461428Hom.: 0 Cov.: 77 AF XY: 0.0000124 AC XY: 9AN XY: 727038
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152270Hom.: 0 Cov.: 34 AF XY: 0.0000806 AC XY: 6AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 09, 2023 | The c.316C>T (p.R106C) alteration is located in exon 3 (coding exon 3) of the UNC5B gene. This alteration results from a C to T substitution at nucleotide position 316, causing the arginine (R) at amino acid position 106 to be replaced by a cysteine (C). 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