chr2-174123617-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013341.5(OLA1):āc.608A>Gā(p.Tyr203Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,596,374 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 (ā ).
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.608A>G | p.Tyr203Cys | missense_variant | 6/11 | ENST00000284719.8 | NP_037473.3 | |
OLA1 | NM_001328688.2 | c.608A>G | p.Tyr203Cys | missense_variant | 6/11 | NP_001315617.1 | ||
OLA1 | NM_001011708.3 | c.134A>G | p.Tyr45Cys | missense_variant | 5/10 | NP_001011708.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OLA1 | ENST00000284719.8 | c.608A>G | p.Tyr203Cys | missense_variant | 6/11 | 1 | NM_013341.5 | ENSP00000284719 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000208 AC: 5AN: 240666Hom.: 0 AF XY: 0.00000766 AC XY: 1AN XY: 130492
GnomAD4 exome AF: 0.00000969 AC: 14AN: 1444190Hom.: 0 Cov.: 28 AF XY: 0.00000696 AC XY: 5AN XY: 718762
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 21, 2023 | The c.608A>G (p.Y203C) alteration is located in exon 6 (coding exon 5) of the OLA1 gene. This alteration results from a A to G substitution at nucleotide position 608, causing the tyrosine (Y) at amino acid position 203 to be replaced by a cysteine (C). 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