chr6-42745520-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_003192.3(TBCC):c.554G>A(p.Gly185Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,611,096 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003192.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000415 AC: 1AN: 240732Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130582
GnomAD4 exome AF: 0.0000295 AC: 43AN: 1458742Hom.: 0 Cov.: 29 AF XY: 0.0000262 AC XY: 19AN XY: 725416
GnomAD4 genome AF: 0.000112 AC: 17AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.554G>A (p.G185D) alteration is located in exon 1 (coding exon 1) of the TBCC gene. This alteration results from a G to A substitution at nucleotide position 554, causing the glycine (G) at amino acid position 185 to be replaced by an aspartic acid (D). 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