10-5094520-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003739.6(AKR1C3):c.76C>T(p.Pro26Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,482 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003739.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKR1C3 | NM_003739.6 | c.76C>T | p.Pro26Ser | missense_variant | Exon 1 of 9 | ENST00000380554.5 | NP_003730.4 | |
AKR1C3 | NM_001253909.2 | c.76C>T | p.Pro26Ser | missense_variant | Exon 1 of 3 | NP_001240838.1 | ||
AKR1C3 | NM_001253908.2 | c.85-1890C>T | intron_variant | Intron 1 of 8 | NP_001240837.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251186Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135746
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460482Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726566
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.76C>T (p.P26S) alteration is located in exon 1 (coding exon 1) of the AKR1C3 gene. This alteration results from a C to T substitution at nucleotide position 76, causing the proline (P) at amino acid position 26 to be replaced by a serine (S). 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