15-43403776-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014444.5(TUBGCP4):c.1825G>A(p.Ala609Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000958 in 1,461,416 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014444.5 missense
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|---|
TUBGCP4 | ENST00000564079.6 | c.1825G>A | p.Ala609Thr | missense_variant | Exon 16 of 18 | 1 | NM_014444.5 | ENSP00000456648.2 | ||
TP53BP1 | ENST00000382044 | c.*3607C>T | 3_prime_UTR_variant | Exon 28 of 28 | 1 | NM_001141980.3 | ENSP00000371475.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249096Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135168
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461416Hom.: 0 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727022
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 610 of the TUBGCP4 protein (p.Ala610Thr). This variant is present in population databases (rs770105036, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TUBGCP4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at