9-96235529-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_000197.2(HSD17B3):c.864C>G(p.Ser288Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,252 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S288S) has been classified as Likely benign.
Frequency
Consequence
NM_000197.2 missense
Scores
Clinical Significance
Conservation
Publications
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, Ambry Genetics, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSD17B3 | ENST00000375263.8 | c.864C>G | p.Ser288Arg | missense_variant | Exon 11 of 11 | 1 | NM_000197.2 | ENSP00000364412.3 | ||
ENSG00000285269 | ENST00000643789.1 | n.*2540C>G | non_coding_transcript_exon_variant | Exon 22 of 22 | ENSP00000494818.1 | |||||
ENSG00000285269 | ENST00000643789.1 | n.*2540C>G | 3_prime_UTR_variant | Exon 22 of 22 | ENSP00000494818.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74380 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at