rs17295755
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001393392.1(AKR1C2):āc.509A>Gā(p.His170Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000227 in 1,614,104 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001393392.1 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 |
---|---|---|---|---|---|---|---|
AKR1C2 | NM_001393392.1 | c.509A>G | p.His170Arg | missense_variant | 5/9 | ENST00000380753.9 | |
LOC101928051 | XR_001747340.2 | n.1785T>C | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C2 | ENST00000380753.9 | c.509A>G | p.His170Arg | missense_variant | 5/9 | 1 | NM_001393392.1 | P1 | |
AKR1C2 | ENST00000421196.7 | c.431A>G | p.His144Arg | missense_variant | 4/8 | 1 | |||
AKR1C2 | ENST00000604507.5 | c.509A>G | p.His170Arg | missense_variant | 6/7 | 5 | |||
AKR1C2 | ENST00000460124.5 | n.1969A>G | non_coding_transcript_exon_variant | 4/8 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000204 AC: 31AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251442Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135890
GnomAD4 exome AF: 0.000230 AC: 336AN: 1461810Hom.: 0 Cov.: 31 AF XY: 0.000242 AC XY: 176AN XY: 727206
GnomAD4 genome ? AF: 0.000204 AC: 31AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at