4-55346393-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024592.5(SRD5A3):c.57G>T(p.Trp19Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. W19L) has been classified as Uncertain significance.
Frequency
Consequence
NM_024592.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRD5A3 | NM_024592.5 | c.57G>T | p.Trp19Cys | missense_variant | 1/5 | ENST00000264228.9 | |
SRD5A3 | NM_001410732.1 | c.57G>T | p.Trp19Cys | missense_variant | 1/4 | ||
SRD5A3 | XM_005265767.4 | c.57G>T | p.Trp19Cys | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRD5A3 | ENST00000264228.9 | c.57G>T | p.Trp19Cys | missense_variant | 1/5 | 1 | NM_024592.5 | P1 | |
SRD5A3 | ENST00000679836.1 | c.57G>T | p.Trp19Cys | missense_variant | 1/4 | ||||
SRD5A3 | ENST00000505210.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1432222Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 711210
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at