rs121434249
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_000348.4(SRD5A2):c.682G>C(p.Ala228Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A228T) has been classified as Pathogenic.
Frequency
Consequence
NM_000348.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRD5A2 | NM_000348.4 | c.682G>C | p.Ala228Pro | missense_variant | 4/5 | ENST00000622030.2 | |
SRD5A2 | XM_011533069.3 | c.460G>C | p.Ala154Pro | missense_variant | 4/5 | ||
SRD5A2 | XM_011533072.3 | c.427G>C | p.Ala143Pro | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRD5A2 | ENST00000622030.2 | c.682G>C | p.Ala228Pro | missense_variant | 4/5 | 1 | NM_000348.4 | P1 | |
ENST00000435713.1 | n.255+1623C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248984Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135064
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at