9-96302014-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000197.2(HSD17B3):c.91G>A(p.Val31Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0118 in 1,614,124 control chromosomes in the GnomAD database, including 352 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000197.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSD17B3 | NM_000197.2 | c.91G>A | p.Val31Ile | missense_variant | 1/11 | ENST00000375263.8 | NP_000188.1 | |
SLC35D2-HSD17B3 | NR_182427.1 | n.2858G>A | non_coding_transcript_exon_variant | 16/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSD17B3 | ENST00000375263.8 | c.91G>A | p.Val31Ile | missense_variant | 1/11 | 1 | NM_000197.2 | ENSP00000364412 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0121 AC: 1838AN: 152164Hom.: 28 Cov.: 31
GnomAD3 exomes AF: 0.0177 AC: 4457AN: 251448Hom.: 128 AF XY: 0.0193 AC XY: 2628AN XY: 135888
GnomAD4 exome AF: 0.0118 AC: 17210AN: 1461842Hom.: 323 Cov.: 33 AF XY: 0.0132 AC XY: 9617AN XY: 727230
GnomAD4 genome AF: 0.0121 AC: 1842AN: 152282Hom.: 29 Cov.: 31 AF XY: 0.0128 AC XY: 956AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 04, 2018 | - - |
Testosterone 17-beta-dehydrogenase deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at