2-31526257-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000348.4(SRD5A2):āc.704A>Cā(p.Tyr235Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000701 in 1,425,548 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.
Frequency
Consequence
NM_000348.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRD5A2 | NM_000348.4 | c.704A>C | p.Tyr235Ser | missense_variant | Exon 5 of 5 | ENST00000622030.2 | NP_000339.2 | |
SRD5A2 | XM_011533069.3 | c.482A>C | p.Tyr161Ser | missense_variant | Exon 5 of 5 | XP_011531371.1 | ||
SRD5A2 | XM_011533072.3 | c.449A>C | p.Tyr150Ser | missense_variant | Exon 7 of 7 | XP_011531374.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.01e-7 AC: 1AN: 1425548Hom.: 0 Cov.: 28 AF XY: 0.00000142 AC XY: 1AN XY: 706398
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.