rs104894144
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The ENST00000369887.4(CYP17A1):āc.985T>Gā(p.Tyr329Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,654 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 Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y329H) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000369887.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP17A1 | NM_000102.4 | c.985T>G | p.Tyr329Asp | missense_variant | 6/8 | ENST00000369887.4 | NP_000093.1 | |
CYP17A1-AS1 | XR_428804.2 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP17A1 | ENST00000369887.4 | c.985T>G | p.Tyr329Asp | missense_variant | 6/8 | 1 | NM_000102.4 | ENSP00000358903 | P3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453654Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 723746
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 01, 2003 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at