NM_001109878.2:c.20C>A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001109878.2(TBX22):c.20C>A(p.Ala7Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001109878.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBX22 | NM_001109878.2 | c.20C>A | p.Ala7Glu | missense_variant | Exon 2 of 9 | ENST00000373296.8 | NP_001103348.1 | |
TBX22 | NM_016954.2 | c.20C>A | p.Ala7Glu | missense_variant | Exon 1 of 8 | NP_058650.1 | ||
TBX22 | NM_001109879.2 | c.-337C>A | 5_prime_UTR_variant | Exon 2 of 9 | NP_001103349.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBX22 | ENST00000373296.8 | c.20C>A | p.Ala7Glu | missense_variant | Exon 2 of 9 | 5 | NM_001109878.2 | ENSP00000362393.3 | ||
TBX22 | ENST00000373294.8 | c.20C>A | p.Ala7Glu | missense_variant | Exon 1 of 8 | 1 | ENSP00000362390.5 | |||
TBX22 | ENST00000476373.1 | n.141C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
TBX22 | ENST00000626498.2 | n.20C>A | non_coding_transcript_exon_variant | Exon 2 of 9 | 2 | ENSP00000487527.1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.