14-24290902-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136050.3(DHRS1):c.899G>A(p.Arg300His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,613,606 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136050.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151750Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251464Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135904
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461856Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 727230
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151750Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74100
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.899G>A (p.R300H) alteration is located in exon 9 (coding exon 8) of the DHRS1 gene. This alteration results from a G to A substitution at nucleotide position 899, causing the arginine (R) at amino acid position 300 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at