rs144359012
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_000383.4(AIRE):c.1296G>A(p.Ala432Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000378 in 1,596,562 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A432A?) has been classified as Pathogenic.
Frequency
Consequence
NM_000383.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00206 AC: 314AN: 152058Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.000504 AC: 120AN: 238124Hom.: 0 AF XY: 0.000461 AC XY: 60AN XY: 130188
GnomAD4 exome AF: 0.000200 AC: 289AN: 1444386Hom.: 1 Cov.: 33 AF XY: 0.000192 AC XY: 138AN XY: 718994
GnomAD4 genome AF: 0.00206 AC: 314AN: 152176Hom.: 4 Cov.: 32 AF XY: 0.00187 AC XY: 139AN XY: 74384
ClinVar
Submissions by phenotype
not specified Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 10, 2016 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | Dec 17, 2019 | - - |
Polyglandular autoimmune syndrome, type 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 23, 2025 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at