rs587784481
Variant summary
Our verdict is Pathogenic. Variant got 13 ACMG points: 13P and 0B. PM2PP2PP3_ModeratePP5_Very_Strong
The NM_006009.4(TUBA1A):c.1129A>G(p.Met377Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★).
Frequency
Consequence
NM_006009.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBA1A | NM_006009.4 | c.1129A>G | p.Met377Val | missense_variant | Exon 4 of 4 | ENST00000301071.12 | NP_006000.2 | |
TUBA1A | NM_001270399.2 | c.1129A>G | p.Met377Val | missense_variant | Exon 4 of 4 | NP_001257328.1 | ||
TUBA1A | NM_001270400.2 | c.1024A>G | p.Met342Val | missense_variant | Exon 4 of 4 | NP_001257329.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Lissencephaly due to TUBA1A mutation Pathogenic:1
- -
Tubulinopathy Pathogenic:1
A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.1129A>G, p.(Met377Val) variant has been reported as a variant of germline/unknown origin. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at