ENST00000617316.2:c.546C>T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The ENST00000617316.2(ORAI1):c.546C>T(p.Ile182Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.176 in 1,614,070 control chromosomes in the GnomAD database, including 27,597 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000617316.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ORAI1 | NR_186857.1 | n.764C>T | non_coding_transcript_exon_variant | Exon 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ORAI1 | ENST00000617316.2 | c.546C>T | p.Ile182Ile | synonymous_variant | Exon 3 of 3 | 1 | ENSP00000482568.2 | |||
ORAI1 | ENST00000611718.1 | n.602C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 5 | |||||
ORAI1 | ENST00000646827.1 | n.744C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | ||||||
ORAI1 | ENST00000698901.1 | n.668C>T | non_coding_transcript_exon_variant | Exon 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.156 AC: 23739AN: 152110Hom.: 2209 Cov.: 33
GnomAD3 exomes AF: 0.203 AC: 50725AN: 249926Hom.: 5920 AF XY: 0.207 AC XY: 28030AN XY: 135214
GnomAD4 exome AF: 0.178 AC: 260437AN: 1461844Hom.: 25382 Cov.: 34 AF XY: 0.183 AC XY: 132880AN XY: 727222
GnomAD4 genome AF: 0.156 AC: 23783AN: 152226Hom.: 2215 Cov.: 33 AF XY: 0.161 AC XY: 11948AN XY: 74432
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
This variant is classified as Benign based on local population frequency. This variant was detected in 51% of patients studied by a panel of primary immunodeficiencies. Number of patients: 48. Only high quality variants are reported. -
not provided Benign:1Other:1
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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. -
Combined immunodeficiency due to ORAI1 deficiency;C4014557:Myopathy, tubular aggregate, 2 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at