chr14-24292315-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001136050.3(DHRS1):āc.523G>Cā(p.Ala175Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000805 in 1,613,962 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000132 AC: 33AN: 250240Hom.: 0 AF XY: 0.000126 AC XY: 17AN XY: 135318
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461792Hom.: 0 Cov.: 31 AF XY: 0.0000715 AC XY: 52AN XY: 727196
GnomAD4 genome AF: 0.000164 AC: 25AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.523G>C (p.A175P) alteration is located in exon 6 (coding exon 5) of the DHRS1 gene. This alteration results from a G to C substitution at nucleotide position 523, causing the alanine (A) at amino acid position 175 to be replaced by a proline (P). 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