chr10-5096522-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003739.6(AKR1C3):c.197G>A(p.Arg66Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00437 in 1,613,744 control chromosomes in the GnomAD database, including 249 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003739.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.197G>A | p.Arg66Gln | missense_variant | 2/9 | ENST00000380554.5 | |
AKR1C3 | NM_001253908.2 | c.197G>A | p.Arg66Gln | missense_variant | 2/9 | ||
AKR1C3 | NM_001253909.2 | c.197G>A | p.Arg66Gln | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C3 | ENST00000380554.5 | c.197G>A | p.Arg66Gln | missense_variant | 2/9 | 1 | NM_003739.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0229 AC: 3481AN: 152046Hom.: 140 Cov.: 32
GnomAD3 exomes AF: 0.00589 AC: 1479AN: 251288Hom.: 48 AF XY: 0.00435 AC XY: 591AN XY: 135804
GnomAD4 exome AF: 0.00242 AC: 3542AN: 1461580Hom.: 106 Cov.: 32 AF XY: 0.00214 AC XY: 1557AN XY: 727094
GnomAD4 genome ? AF: 0.0230 AC: 3504AN: 152164Hom.: 143 Cov.: 32 AF XY: 0.0223 AC XY: 1657AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 15, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at