rs61741669
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_006087.4(TUBB4A):c.342C>T(p.Asp114Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00617 in 1,614,102 control chromosomes in the GnomAD database, including 541 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006087.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0333 AC: 5068AN: 152102Hom.: 291 Cov.: 32
GnomAD3 exomes AF: 0.00878 AC: 2208AN: 251370Hom.: 130 AF XY: 0.00636 AC XY: 864AN XY: 135852
GnomAD4 exome AF: 0.00333 AC: 4875AN: 1461882Hom.: 249 Cov.: 33 AF XY: 0.00284 AC XY: 2062AN XY: 727246
GnomAD4 genome AF: 0.0334 AC: 5083AN: 152220Hom.: 292 Cov.: 32 AF XY: 0.0325 AC XY: 2416AN XY: 74428
ClinVar
Submissions by phenotype
Hypomyelinating leukodystrophy 6 Benign:2
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
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not specified Benign:1
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. -
Torsion dystonia 4 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at