rs61271372
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBS1BS2
The NM_001371986.1(UNC80):c.9503C>T(p.Pro3168Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00231 in 1,551,362 control chromosomes in the GnomAD database, including 48 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P3168A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001371986.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC80 | NM_001371986.1 | c.9503C>T | p.Pro3168Leu | missense_variant | 63/65 | ENST00000673920.1 | |
UNC80 | NM_032504.2 | c.9305C>T | p.Pro3102Leu | missense_variant | 62/64 | ||
UNC80 | NM_182587.4 | c.9233C>T | p.Pro3078Leu | missense_variant | 61/63 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC80 | ENST00000673920.1 | c.9503C>T | p.Pro3168Leu | missense_variant | 63/65 | NM_001371986.1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0108 AC: 1645AN: 152158Hom.: 23 Cov.: 32
GnomAD3 exomes AF: 0.00273 AC: 428AN: 156506Hom.: 5 AF XY: 0.00211 AC XY: 175AN XY: 82934
GnomAD4 exome AF: 0.00138 AC: 1926AN: 1399086Hom.: 25 Cov.: 30 AF XY: 0.00121 AC XY: 834AN XY: 690054
GnomAD4 genome AF: 0.0108 AC: 1651AN: 152276Hom.: 23 Cov.: 32 AF XY: 0.0104 AC XY: 777AN XY: 74472
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Apr 19, 2017 | - - |
UNC80-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 25, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at