rs74702388
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000348.4(SRD5A2):c.*1151_*1152delTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000397 in 50,376 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00040 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
SRD5A2
NM_000348.4 3_prime_UTR
NM_000348.4 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.414
Genes affected
SRD5A2 (HGNC:11285): (steroid 5 alpha-reductase 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRD5A2 | NM_000348.4 | c.*1151_*1152delTT | 3_prime_UTR_variant | Exon 5 of 5 | ENST00000622030.2 | NP_000339.2 | ||
SRD5A2 | XM_011533069.3 | c.*1151_*1152delTT | 3_prime_UTR_variant | Exon 5 of 5 | XP_011531371.1 | |||
SRD5A2 | XM_011533072.3 | c.*1151_*1152delTT | 3_prime_UTR_variant | Exon 7 of 7 | XP_011531374.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 141364Hom.: 0 Cov.: 32 FAILED QC
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GnomAD4 exome AF: 0.000397 AC: 20AN: 50376Hom.: 0 AF XY: 0.000257 AC XY: 6AN XY: 23358
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GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 141364Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 68474
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at