11-120123049-T-G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_012101.4(TRIM29):c.1340A>C(p.Asp447Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,614,034 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012101.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM29 | NM_012101.4 | c.1340A>C | p.Asp447Ala | missense_variant | Exon 5 of 9 | ENST00000341846.10 | NP_036233.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152098Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000278 AC: 7AN: 251426 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461818Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727220 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000105 AC: 16AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74428 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1340A>C (p.D447A) alteration is located in exon 5 (coding exon 5) of the TRIM29 gene. This alteration results from a A to C substitution at nucleotide position 1340, causing the aspartic acid (D) at amino acid position 447 to be replaced by an alanine (A). 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