10-5200314-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001818.5(AKR1C4):c.218G>A(p.Ser73Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001818.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKR1C4 | NM_001818.5 | c.218G>A | p.Ser73Asn | missense_variant | 2/9 | ENST00000263126.3 | NP_001809.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AKR1C4 | ENST00000263126.3 | c.218G>A | p.Ser73Asn | missense_variant | 2/9 | 1 | NM_001818.5 | ENSP00000263126 | P1 | |
AKR1C4 | ENST00000380448.5 | c.218G>A | p.Ser73Asn | missense_variant | 4/11 | 5 | ENSP00000369814 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152264Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251202Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135764
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461790Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727194
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152264Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 23, 2022 | The c.218G>A (p.S73N) alteration is located in exon 2 (coding exon 2) of the AKR1C4 gene. This alteration results from a G to A substitution at nucleotide position 218, causing the serine (S) at amino acid position 73 to be replaced by an asparagine (N). 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