rs9938550
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025193.4(HSD3B7):c.748A>C(p.Thr250Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/17 in silico tools predict a benign 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. T250A) has been classified as Likely benign.
Frequency
Consequence
NM_025193.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSD3B7 | ENST00000297679.10 | c.748A>C | p.Thr250Pro | missense_variant | Exon 7 of 7 | 1 | NM_025193.4 | ENSP00000297679.5 | ||
HSD3B7 | ENST00000262520.10 | c.585A>C | p.Gln195His | missense_variant | Exon 6 of 6 | 2 | ENSP00000262520.6 | |||
ENSG00000279196 | ENST00000624286.1 | n.450T>G | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 61
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at