4-87310247-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178135.5(HSD17B13):c.808C>G(p.Gln270Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000071 in 1,408,500 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/22 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. Q270K) has been classified as Likely benign.
Frequency
Consequence
NM_178135.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSD17B13 | ENST00000328546.5 | c.808C>G | p.Gln270Glu | missense_variant | Exon 6 of 7 | 1 | NM_178135.5 | ENSP00000333300.4 | ||
HSD17B13 | ENST00000302219.10 | c.700C>G | p.Gln234Glu | missense_variant | Exon 5 of 6 | 1 | ENSP00000305438.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.10e-7 AC: 1AN: 1408500Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 700294 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at