chr17-82926488-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005993.5(TBCD):āc.2468C>Gā(p.Ala823Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000547 in 1,461,302 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A823E) has been classified as Uncertain significance.
Frequency
Consequence
NM_005993.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBCD | NM_005993.5 | c.2468C>G | p.Ala823Gly | missense_variant | 28/39 | ENST00000355528.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBCD | ENST00000355528.9 | c.2468C>G | p.Ala823Gly | missense_variant | 28/39 | 1 | NM_005993.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248748Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134956
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461302Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 726906
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at