rs774280858
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001136050.3(DHRS1):āc.529T>Cā(p.Cys177Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,613,922 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001136050.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250352Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135384
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461846Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727228
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529T>C (p.C177R) alteration is located in exon 6 (coding exon 5) of the DHRS1 gene. This alteration results from a T to C substitution at nucleotide position 529, causing the cysteine (C) at amino acid position 177 to be replaced by an arginine (R). 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