NM_006009.4:c.522G>A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_006009.4(TUBA1A):c.522G>A(p.Ala174Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00694 in 1,610,752 control chromosomes in the GnomAD database, including 332 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006009.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBA1A | NM_006009.4 | c.522G>A | p.Ala174Ala | synonymous_variant | Exon 4 of 4 | ENST00000301071.12 | NP_006000.2 | |
TUBA1A | NM_001270399.2 | c.522G>A | p.Ala174Ala | synonymous_variant | Exon 4 of 4 | NP_001257328.1 | ||
TUBA1A | NM_001270400.2 | c.417G>A | p.Ala139Ala | synonymous_variant | Exon 4 of 4 | NP_001257329.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0269 AC: 4082AN: 151800Hom.: 145 Cov.: 31
GnomAD3 exomes AF: 0.00830 AC: 2084AN: 251170Hom.: 73 AF XY: 0.00699 AC XY: 950AN XY: 135832
GnomAD4 exome AF: 0.00484 AC: 7065AN: 1458836Hom.: 182 Cov.: 30 AF XY: 0.00459 AC XY: 3335AN XY: 725830
GnomAD4 genome AF: 0.0271 AC: 4116AN: 151916Hom.: 150 Cov.: 31 AF XY: 0.0268 AC XY: 1991AN XY: 74242
ClinVar
Submissions by phenotype
not specified Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at