chr10-5102622-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003739.6(AKR1C3):āc.818A>Gā(p.Asn273Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00012 in 1,497,064 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003739.6 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 | UniProt |
---|---|---|---|---|---|---|---|
AKR1C3 | NM_003739.6 | c.818A>G | p.Asn273Ser | missense_variant | 7/9 | ENST00000380554.5 | |
AKR1C3 | NM_001253908.2 | c.818A>G | p.Asn273Ser | missense_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C3 | ENST00000380554.5 | c.818A>G | p.Asn273Ser | missense_variant | 7/9 | 1 | NM_003739.6 | P4 | |
AKR1C3 | ENST00000439082.7 | c.818A>G | p.Asn273Ser | missense_variant | 7/9 | 5 | A1 | ||
AKR1C3 | ENST00000605149.5 | c.749A>G | p.Asn250Ser | missense_variant | 7/9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000989 AC: 15AN: 151640Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.000120 AC: 15AN: 124992Hom.: 0 AF XY: 0.0000934 AC XY: 6AN XY: 64214
GnomAD4 exome AF: 0.000122 AC: 164AN: 1345306Hom.: 0 Cov.: 33 AF XY: 0.000120 AC XY: 79AN XY: 656706
GnomAD4 genome AF: 0.0000988 AC: 15AN: 151758Hom.: 0 Cov.: 28 AF XY: 0.000121 AC XY: 9AN XY: 74160
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2023 | The c.818A>G (p.N273S) alteration is located in exon 7 (coding exon 7) of the AKR1C3 gene. This alteration results from a A to G substitution at nucleotide position 818, causing the asparagine (N) at amino acid position 273 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