rs777796155
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP3BS1_Supporting
The NM_020461.4(TUBGCP6):c.1529T>G(p.Leu510Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000943 in 1,590,208 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_020461.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBGCP6 | NM_020461.4 | c.1529T>G | p.Leu510Arg | missense_variant | Exon 7 of 25 | ENST00000248846.10 | NP_065194.3 | |
TUBGCP6 | XR_001755343.3 | n.2093T>G | non_coding_transcript_exon_variant | Exon 7 of 20 | ||||
TUBGCP6 | XR_007067982.1 | n.2093T>G | non_coding_transcript_exon_variant | Exon 7 of 19 | ||||
TUBGCP6 | XR_938347.3 | n.2093T>G | non_coding_transcript_exon_variant | Exon 7 of 23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TUBGCP6 | ENST00000248846.10 | c.1529T>G | p.Leu510Arg | missense_variant | Exon 7 of 25 | 1 | NM_020461.4 | ENSP00000248846.5 | ||
TUBGCP6 | ENST00000439308.6 | c.1529T>G | p.Leu510Arg | missense_variant | Exon 7 of 25 | 1 | ENSP00000397387.2 | |||
TUBGCP6 | ENST00000498611.5 | n.2062T>G | non_coding_transcript_exon_variant | Exon 7 of 23 | 1 | |||||
TUBGCP6 | ENST00000434349.1 | c.758T>G | p.Leu253Arg | missense_variant | Exon 6 of 6 | 5 | ENSP00000409650.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000953 AC: 2AN: 209886Hom.: 0 AF XY: 0.00000890 AC XY: 1AN XY: 112348
GnomAD4 exome AF: 0.00000974 AC: 14AN: 1438032Hom.: 1 Cov.: 33 AF XY: 0.00000842 AC XY: 6AN XY: 712764
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
- -
not provided Uncertain:1
This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 510 of the TUBGCP6 protein (p.Leu510Arg). This variant is present in population databases (rs777796155, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 212506). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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