rs758870962
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_000383.4(AIRE):āc.137C>Gā(p.Thr46Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,457,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T46M) has been classified as Uncertain significance.
Frequency
Consequence
NM_000383.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AIRE | NM_000383.4 | c.137C>G | p.Thr46Arg | missense_variant | 2/14 | ENST00000291582.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AIRE | ENST00000291582.6 | c.137C>G | p.Thr46Arg | missense_variant | 2/14 | 1 | NM_000383.4 | P1 | |
AIRE | ENST00000527919.5 | n.298C>G | non_coding_transcript_exon_variant | 2/14 | 2 | ||||
AIRE | ENST00000530812.5 | n.306C>G | non_coding_transcript_exon_variant | 2/12 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248652Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135000
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457810Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724734
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at