11-35663338-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_017583.6(TRIM44):āc.227C>Gā(p.Ala76Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,613,430 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 (ā ).
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.227C>G | p.Ala76Gly | missense_variant | 1/5 | ENST00000299413.7 | |
TRIM44 | XM_006718254.2 | c.227C>G | p.Ala76Gly | missense_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM44 | ENST00000299413.7 | c.227C>G | p.Ala76Gly | missense_variant | 1/5 | 1 | NM_017583.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000725 AC: 11AN: 151676Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247836Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134446
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461754Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727168
GnomAD4 genome AF: 0.0000725 AC: 11AN: 151676Hom.: 0 Cov.: 32 AF XY: 0.0000675 AC XY: 5AN XY: 74048
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.227C>G (p.A76G) alteration is located in exon 1 (coding exon 1) of the TRIM44 gene. This alteration results from a C to G substitution at nucleotide position 227, causing the alanine (A) at amino acid position 76 to be replaced by a glycine (G). 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