2-174123642-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.583G>A(p.Asp195Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000692 in 1,445,284 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLA1 | NM_013341.5 | c.583G>A | p.Asp195Asn | missense_variant | Exon 6 of 11 | ENST00000284719.8 | NP_037473.3 | |
OLA1 | NM_001328688.2 | c.583G>A | p.Asp195Asn | missense_variant | Exon 6 of 11 | NP_001315617.1 | ||
OLA1 | NM_001011708.3 | c.109G>A | p.Asp37Asn | missense_variant | Exon 5 of 10 | NP_001011708.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240464Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130404
GnomAD4 exome AF: 0.00000692 AC: 10AN: 1445284Hom.: 0 Cov.: 28 AF XY: 0.00000695 AC XY: 5AN XY: 719206
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.583G>A (p.D195N) alteration is located in exon 6 (coding exon 5) of the OLA1 gene. This alteration results from a G to A substitution at nucleotide position 583, causing the aspartic acid (D) at amino acid position 195 to be replaced by an asparagine (N). 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