rs543891914
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_000383.4(AIRE):c.1207G>A(p.Ala403Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000149 in 1,608,004 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000383.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AIRE | NM_000383.4 | c.1207G>A | p.Ala403Thr | missense_variant | 10/14 | ENST00000291582.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AIRE | ENST00000291582.6 | c.1207G>A | p.Ala403Thr | missense_variant | 10/14 | 1 | NM_000383.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000358 AC: 85AN: 237166Hom.: 0 AF XY: 0.000566 AC XY: 73AN XY: 129018
GnomAD4 exome AF: 0.000152 AC: 221AN: 1455706Hom.: 1 Cov.: 33 AF XY: 0.000246 AC XY: 178AN XY: 723808
GnomAD4 genome AF: 0.000118 AC: 18AN: 152298Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74472
ClinVar
Submissions by phenotype
Polyglandular autoimmune syndrome, type 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 04, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at