20-37983521-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001303457.2(TTI1):c.3205G>A(p.Gly1069Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000255 in 1,610,858 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001303457.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTI1 | NM_001303457.2 | c.3205G>A | p.Gly1069Arg | missense_variant | Exon 8 of 8 | ENST00000373447.8 | NP_001290386.1 | |
TTI1 | NM_014657.3 | c.3205G>A | p.Gly1069Arg | missense_variant | Exon 9 of 9 | NP_055472.1 | ||
TTI1 | XM_047440606.1 | c.3205G>A | p.Gly1069Arg | missense_variant | Exon 8 of 8 | XP_047296562.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTI1 | ENST00000373447.8 | c.3205G>A | p.Gly1069Arg | missense_variant | Exon 8 of 8 | 1 | NM_001303457.2 | ENSP00000362546.3 | ||
TTI1 | ENST00000373448.6 | c.3205G>A | p.Gly1069Arg | missense_variant | Exon 9 of 9 | 1 | ENSP00000362547.2 | |||
TTI1 | ENST00000449821.1 | c.3205G>A | p.Gly1069Arg | missense_variant | Exon 7 of 7 | 2 | ENSP00000407270.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 150988Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000284 AC: 7AN: 246738Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133622
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1459870Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 22AN XY: 726192
GnomAD4 genome AF: 0.0000132 AC: 2AN: 150988Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73732
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3205G>A (p.G1069R) alteration is located in exon 9 (coding exon 7) of the TTI1 gene. This alteration results from a G to A substitution at nucleotide position 3205, causing the glycine (G) at amino acid position 1069 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