chr10-5098866-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_003739.6(AKR1C3):c.434G>A(p.Cys145Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000994 in 1,613,330 control chromosomes in the GnomAD database, including 29 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_003739.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKR1C3 | NM_003739.6 | c.434G>A | p.Cys145Tyr | missense_variant | 4/9 | ENST00000380554.5 | |
AKR1C3 | NM_001253908.2 | c.434G>A | p.Cys145Tyr | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C3 | ENST00000380554.5 | c.434G>A | p.Cys145Tyr | missense_variant | 4/9 | 1 | NM_003739.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00108 AC: 165AN: 152202Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00258 AC: 645AN: 250280Hom.: 10 AF XY: 0.00249 AC XY: 337AN XY: 135226
GnomAD4 exome AF: 0.000984 AC: 1437AN: 1461010Hom.: 27 Cov.: 30 AF XY: 0.000966 AC XY: 702AN XY: 726772
GnomAD4 genome ? AF: 0.00109 AC: 166AN: 152320Hom.: 2 Cov.: 33 AF XY: 0.00129 AC XY: 96AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at