11-35663275-A-G
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_017583.6(TRIM44):c.164A>G(p.His55Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,613,458 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 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
Publications
- isolated aniridiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- aniridia 3Inheritance: AD Classification: LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), Genomics England PanelApp, Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152052Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000566 AC: 14AN: 247480 AF XY: 0.0000522 show subpopulations
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461288Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 726806 show subpopulations
GnomAD4 genome AF: 0.000105 AC: 16AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74394 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.164A>G (p.H55R) alteration is located in exon 1 (coding exon 1) of the TRIM44 gene. This alteration results from a A to G substitution at nucleotide position 164, causing the histidine (H) at amino acid position 55 to be replaced by an arginine (R). 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