7-102439030-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001126340.3(ORAI2):c.74A>G(p.Asp25Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001126340.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ORAI2 | NM_001126340.3 | c.74A>G | p.Asp25Gly | missense_variant | Exon 3 of 4 | ENST00000495936.7 | NP_001119812.1 | |
ORAI2 | NM_001271818.2 | c.74A>G | p.Asp25Gly | missense_variant | Exon 3 of 4 | NP_001258747.1 | ||
ORAI2 | NM_032831.4 | c.74A>G | p.Asp25Gly | missense_variant | Exon 2 of 3 | NP_116220.1 | ||
ORAI2 | NM_001271819.2 | c.-7+2697A>G | intron_variant | Intron 2 of 2 | NP_001258748.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.74A>G (p.D25G) alteration is located in exon 3 (coding exon 1) of the ORAI2 gene. This alteration results from a A to G substitution at nucleotide position 74, causing the aspartic acid (D) at amino acid position 25 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.