2-3499049-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018269.4(ADI1):c.454G>C(p.Glu152Gln) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018269.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADI1 | ENST00000327435.11 | c.454G>C | p.Glu152Gln | missense_variant | Exon 4 of 4 | 1 | NM_018269.4 | ENSP00000333666.3 | ||
ADI1 | ENST00000382093.5 | c.436G>C | p.Glu146Gln | missense_variant | Exon 4 of 4 | 2 | ENSP00000371525.5 | |||
ADI1 | ENST00000415131.1 | c.265G>C | p.Glu89Gln | missense_variant | Exon 2 of 2 | 3 | ENSP00000410178.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.454G>C (p.E152Q) alteration is located in exon 4 (coding exon 4) of the ADI1 gene. This alteration results from a G to C substitution at nucleotide position 454, causing the glutamic acid (E) at amino acid position 152 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.