chr2-174141892-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013341.5(OLA1):c.482G>A(p.Gly161Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000089 in 1,460,140 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013341.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLA1 | NM_013341.5 | c.482G>A | p.Gly161Glu | missense_variant | 5/11 | ENST00000284719.8 | NP_037473.3 | |
OLA1 | NM_001328688.2 | c.482G>A | p.Gly161Glu | missense_variant | 5/11 | NP_001315617.1 | ||
OLA1 | NM_001011708.3 | c.8G>A | p.Gly3Glu | missense_variant | 4/10 | NP_001011708.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OLA1 | ENST00000284719.8 | c.482G>A | p.Gly161Glu | missense_variant | 5/11 | 1 | NM_013341.5 | ENSP00000284719 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460140Hom.: 0 Cov.: 31 AF XY: 0.00000964 AC XY: 7AN XY: 726392
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.482G>A (p.G161E) alteration is located in exon 5 (coding exon 4) of the OLA1 gene. This alteration results from a G to A substitution at nucleotide position 482, causing the glycine (G) at amino acid position 161 to be replaced by a glutamic acid (E). 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