7-138460889-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015905.3(TRIM24):c.341G>T(p.Gly114Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000081 in 1,517,678 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015905.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM24 | NM_015905.3 | c.341G>T | p.Gly114Val | missense_variant | 1/19 | ENST00000343526.9 | NP_056989.2 | |
TRIM24 | NM_003852.4 | c.341G>T | p.Gly114Val | missense_variant | 1/19 | NP_003843.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM24 | ENST00000343526.9 | c.341G>T | p.Gly114Val | missense_variant | 1/19 | 1 | NM_015905.3 | ENSP00000340507.4 | ||
TRIM24 | ENST00000415680.6 | c.341G>T | p.Gly114Val | missense_variant | 1/19 | 1 | ENSP00000390829.2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152040Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000236 AC: 3AN: 127384Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 72770
GnomAD4 exome AF: 0.0000857 AC: 117AN: 1365530Hom.: 0 Cov.: 32 AF XY: 0.0000991 AC XY: 67AN XY: 676278
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152148Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.341G>T (p.G114V) alteration is located in exon 1 (coding exon 1) of the TRIM24 gene. This alteration results from a G to T substitution at nucleotide position 341, causing the glycine (G) at amino acid position 114 to be replaced by a valine (V). 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