chr11-4091752-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001382567.1(STIM1):āc.2105G>Cā(p.Arg702Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,459,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R702L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001382567.1 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 |
---|---|---|---|---|---|---|---|
STIM1 | NM_001382567.1 | c.2105G>C | p.Arg702Pro | missense_variant | 13/13 | ENST00000526596.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STIM1 | ENST00000526596.2 | c.2105G>C | p.Arg702Pro | missense_variant | 13/13 | 5 | NM_001382567.1 | P3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248870Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134738
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459484Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726146
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at