chr21-44286105-T-C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000383.4(AIRE):āc.99T>Cā(p.Ala33Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0554 in 1,546,618 control chromosomes in the GnomAD database, including 13,380 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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AIRE | ENST00000291582.6 | c.99T>C | p.Ala33Ala | synonymous_variant | Exon 1 of 14 | 1 | NM_000383.4 | ENSP00000291582.5 | ||
AIRE | ENST00000527919.5 | n.260T>C | non_coding_transcript_exon_variant | Exon 1 of 14 | 2 | |||||
AIRE | ENST00000530812.5 | n.268T>C | non_coding_transcript_exon_variant | Exon 1 of 12 | 2 |
Frequencies
GnomAD3 genomes AF: 0.174 AC: 26395AN: 151962Hom.: 5891 Cov.: 32
GnomAD3 exomes AF: 0.0910 AC: 12890AN: 141686Hom.: 1730 AF XY: 0.0847 AC XY: 6508AN XY: 76840
GnomAD4 exome AF: 0.0425 AC: 59241AN: 1394548Hom.: 7454 Cov.: 30 AF XY: 0.0425 AC XY: 29262AN XY: 688016
GnomAD4 genome AF: 0.174 AC: 26482AN: 152070Hom.: 5926 Cov.: 32 AF XY: 0.172 AC XY: 12768AN XY: 74346
ClinVar
Submissions by phenotype
not specified Benign:4
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Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
Polyglandular autoimmune syndrome, type 1 Benign:3
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not provided Benign:3
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at