11-35663405-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_017583.6(TRIM44):c.294G>T(p.Glu98Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000566 in 1,589,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017583.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM44 | NM_017583.6 | c.294G>T | p.Glu98Asp | missense_variant | 1/5 | ENST00000299413.7 | |
TRIM44 | XM_006718254.2 | c.294G>T | p.Glu98Asp | missense_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM44 | ENST00000299413.7 | c.294G>T | p.Glu98Asp | missense_variant | 1/5 | 1 | NM_017583.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151978Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000972 AC: 2AN: 205844Hom.: 0 AF XY: 0.00000902 AC XY: 1AN XY: 110916
GnomAD4 exome AF: 0.00000417 AC: 6AN: 1437624Hom.: 0 Cov.: 31 AF XY: 0.00000561 AC XY: 4AN XY: 713298
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151978Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74246
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at