rs72557935
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001395413.1(POR):c.1346C>T(p.Pro449Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000238 in 1,599,172 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 (★). Synonymous variant affecting the same amino acid position (i.e. P449P) has been classified as Likely benign.
Frequency
Consequence
NM_001395413.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POR | NM_001395413.1 | c.1346C>T | p.Pro449Leu | missense_variant | 12/16 | ENST00000461988.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POR | ENST00000461988.6 | c.1346C>T | p.Pro449Leu | missense_variant | 12/16 | 1 | NM_001395413.1 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000428 AC: 10AN: 233668Hom.: 0 AF XY: 0.0000542 AC XY: 7AN XY: 129098
GnomAD4 exome AF: 0.0000221 AC: 32AN: 1446806Hom.: 0 Cov.: 36 AF XY: 0.0000194 AC XY: 14AN XY: 720224
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Nov 14, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at