chr21-44293094-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):c.1197T>C(p.Ala399Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.366 in 1,609,302 control chromosomes in the GnomAD database, including 109,045 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
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: 0.391 AC: 59434AN: 151888Hom.: 12099 Cov.: 33
GnomAD3 exomes AF: 0.350 AC: 84601AN: 241844Hom.: 15214 AF XY: 0.349 AC XY: 45944AN XY: 131530
GnomAD4 exome AF: 0.363 AC: 529004AN: 1457294Hom.: 96930 Cov.: 46 AF XY: 0.361 AC XY: 261661AN XY: 724716
GnomAD4 genome AF: 0.391 AC: 59484AN: 152008Hom.: 12115 Cov.: 33 AF XY: 0.392 AC XY: 29095AN XY: 74310
ClinVar
Submissions by phenotype
not specified Benign:7
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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. -
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This variant is classified as Benign based on local population frequency. This variant was detected in 41% of patients studied by a panel of primary immunodeficiencies. Number of patients: 39. Only high quality variants are reported. -
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Polyglandular autoimmune syndrome, type 1 Benign:3
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not provided Benign:2Other:1
Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at