9-111586093-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001146108.2(PTGR1):āc.282C>Gā(p.His94Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000216 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H94Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001146108.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PTGR1 | NM_001146108.2 | c.282C>G | p.His94Gln | missense_variant | 5/10 | ENST00000407693.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTGR1 | ENST00000407693.7 | c.282C>G | p.His94Gln | missense_variant | 5/10 | 1 | NM_001146108.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251454Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135898
GnomAD4 exome AF: 0.000220 AC: 322AN: 1461870Hom.: 0 Cov.: 31 AF XY: 0.000220 AC XY: 160AN XY: 727234
GnomAD4 genome AF: 0.000177 AC: 27AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 18, 2023 | The c.282C>G (p.H94Q) alteration is located in exon 5 (coding exon 4) of the PTGR1 gene. This alteration results from a C to G substitution at nucleotide position 282, causing the histidine (H) at amino acid position 94 to be replaced by a glutamine (Q). 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