10-71284732-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_170744.5(UNC5B):c.317G>A(p.Arg106His) variant causes a missense change. The variant allele was found at a frequency of 0.0000235 in 1,613,752 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UNC5B | ENST00000335350.10 | c.317G>A | p.Arg106His | missense_variant | Exon 3 of 17 | 1 | NM_170744.5 | ENSP00000334329.6 | ||
UNC5B | ENST00000373192.4 | c.317G>A | p.Arg106His | missense_variant | Exon 3 of 16 | 1 | ENSP00000362288.4 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152154Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000559 AC: 14AN: 250526Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135454
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461480Hom.: 0 Cov.: 76 AF XY: 0.0000248 AC XY: 18AN XY: 727040
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152272Hom.: 0 Cov.: 34 AF XY: 0.0000672 AC XY: 5AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.317G>A (p.R106H) alteration is located in exon 3 (coding exon 3) of the UNC5B gene. This alteration results from a G to A substitution at nucleotide position 317, causing the arginine (R) at amino acid position 106 to be replaced by a histidine (H). 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