rs75603737
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032790.3(ORAI1):āc.671A>Cā(p.Asn224Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032790.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ORAI1 | NM_032790.3 | c.671A>C | p.Asn224Thr | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ORAI1 | ENST00000617316.2 | c.668A>C | p.Asn223Thr | missense_variant | 3/3 | 1 | P1 | ||
ORAI1 | ENST00000611718.1 | n.724A>C | non_coding_transcript_exon_variant | 2/2 | 5 | ||||
ORAI1 | ENST00000646827.1 | n.866A>C | non_coding_transcript_exon_variant | 2/2 | |||||
ORAI1 | ENST00000698901.1 | n.790A>C | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248572Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134946
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461536Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727110
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at