chr7-75980485-C-A
Variant summary
Our verdict is Likely pathogenic. The variant received 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001395413.1(POR):c.504C>A(p.Phe168Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,696 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar. Synonymous variant affecting the same amino acid position (i.e. F168F) has been classified as Likely benign.
Frequency
Consequence
NM_001395413.1 missense
Scores
Clinical Significance
Conservation
Publications
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesisInheritance: AR Classification: DEFINITIVE, STRONG Submitted by: ClinGen, PanelApp Australia, Ambry Genetics
- congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyInheritance: AR Classification: STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet
- Antley-Bixler syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POR | NM_001395413.1 | c.504C>A | p.Phe168Leu | missense_variant | Exon 5 of 16 | ENST00000461988.6 | NP_001382342.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.00000402 AC: 1AN: 248844 AF XY: 0.00000740 show subpopulations
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460696Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726622 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at