16-67155435-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003789.4(TRADD):c.371G>C(p.Arg124Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000113 in 1,596,612 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003789.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRADD | NM_003789.4 | c.371G>C | p.Arg124Pro | missense_variant | 3/5 | ENST00000345057.9 | |
TRADD | NM_001323552.2 | c.371G>C | p.Arg124Pro | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRADD | ENST00000345057.9 | c.371G>C | p.Arg124Pro | missense_variant | 3/5 | 1 | NM_003789.4 | P1 | |
TRADD | ENST00000486556.1 | c.191G>C | p.Arg64Pro | missense_variant | 1/3 | 2 | |||
TRADD | ENST00000566247.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000788 AC: 12AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000127 AC: 28AN: 220530Hom.: 0 AF XY: 0.000146 AC XY: 18AN XY: 123426
GnomAD4 exome AF: 0.000116 AC: 168AN: 1444266Hom.: 1 Cov.: 35 AF XY: 0.000127 AC XY: 91AN XY: 718866
GnomAD4 genome ? AF: 0.0000788 AC: 12AN: 152346Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2022 | The c.371G>C (p.R124P) alteration is located in exon 3 (coding exon 2) of the TRADD gene. This alteration results from a G to C substitution at nucleotide position 371, causing the arginine (R) at amino acid position 124 to be replaced by a proline (P). 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