19-48813288-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016246.3(HSD17B14):c.700G>A(p.Glu234Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000689 in 1,450,740 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016246.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSD17B14 | NM_016246.3 | c.700G>A | p.Glu234Lys | missense_variant | Exon 9 of 9 | ENST00000263278.9 | NP_057330.2 | |
HSD17B14 | XM_005258969.5 | c.603G>A | p.Pro201Pro | synonymous_variant | Exon 8 of 8 | XP_005259026.1 | ||
HSD17B14 | XM_047438897.1 | c.*292G>A | downstream_gene_variant | XP_047294853.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSD17B14 | ENST00000263278.9 | c.700G>A | p.Glu234Lys | missense_variant | Exon 9 of 9 | 1 | NM_016246.3 | ENSP00000263278.3 | ||
HSD17B14 | ENST00000599157.5 | c.628G>A | p.Glu210Lys | missense_variant | Exon 8 of 8 | 3 | ENSP00000472746.1 | |||
HSD17B14 | ENST00000595764.1 | c.495G>A | p.Pro165Pro | synonymous_variant | Exon 7 of 7 | 5 | ENSP00000469557.1 | |||
HSD17B14 | ENST00000596349.5 | c.285G>A | p.Pro95Pro | synonymous_variant | Exon 4 of 4 | 5 | ENSP00000471631.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000134 AC: 3AN: 224346Hom.: 0 AF XY: 0.0000165 AC XY: 2AN XY: 121524
GnomAD4 exome AF: 0.00000689 AC: 10AN: 1450740Hom.: 0 Cov.: 32 AF XY: 0.00000555 AC XY: 4AN XY: 720572
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.700G>A (p.E234K) alteration is located in exon 9 (coding exon 9) of the HSD17B14 gene. This alteration results from a G to A substitution at nucleotide position 700, causing the glutamic acid (E) at amino acid position 234 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
High myopia Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at