rs1055311
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_000383.4(AIRE):c.681C>G(p.Gly227=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,612,550 control chromosomes in the GnomAD database, including 1 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. G227G) has been classified as Benign.
Frequency
Consequence
NM_000383.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AIRE | NM_000383.4 | c.681C>G | p.Gly227= | synonymous_variant | 6/14 | ENST00000291582.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AIRE | ENST00000291582.6 | c.681C>G | p.Gly227= | synonymous_variant | 6/14 | 1 | NM_000383.4 | P1 | |
AIRE | ENST00000527919.5 | n.1414C>G | non_coding_transcript_exon_variant | 6/14 | 2 | ||||
AIRE | ENST00000530812.5 | n.2431C>G | non_coding_transcript_exon_variant | 4/12 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152074Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249922Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135640
GnomAD4 exome AF: 0.0000199 AC: 29AN: 1460476Hom.: 1 Cov.: 43 AF XY: 0.0000289 AC XY: 21AN XY: 726532
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152074Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74284
ClinVar
Submissions by phenotype
Polyglandular autoimmune syndrome, type 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 26, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at