2-219250357-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006000.3(TUBA4A):c.1342G>A(p.Glu448Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,456,186 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006000.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TUBA4A | ENST00000248437.9 | c.1342G>A | p.Glu448Lys | missense_variant | Exon 4 of 4 | 1 | NM_006000.3 | ENSP00000248437.4 | ||
TUBA4A | ENST00000392088.6 | c.1297G>A | p.Glu433Lys | missense_variant | Exon 4 of 4 | 2 | ENSP00000375938.2 | |||
STK16 | ENST00000396738.7 | c.*1798C>T | downstream_gene_variant | 2 | NM_001330213.2 | ENSP00000379964.2 | ||||
STK16 | ENST00000409638.7 | c.*1798C>T | downstream_gene_variant | 1 | ENSP00000386928.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456186Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 723512
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1342G>A (p.E448K) alteration is located in exon 4 (coding exon 4) of the TUBA4A gene. This alteration results from a G to A substitution at nucleotide position 1342, causing the glutamic acid (E) at amino acid position 448 to be replaced by a lysine (K). 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