rs17134592
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001818.5(AKR1C4):c.931C>G(p.Leu311Val) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.139 in 1,593,568 control chromosomes in the GnomAD database, including 16,529 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. 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_001818.5 missense, splice_region
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 |
---|---|---|---|---|---|---|---|
AKR1C4 | NM_001818.5 | c.931C>G | p.Leu311Val | missense_variant, splice_region_variant | 9/9 | ENST00000263126.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C4 | ENST00000263126.3 | c.931C>G | p.Leu311Val | missense_variant, splice_region_variant | 9/9 | 1 | NM_001818.5 | P1 | |
AKR1C4 | ENST00000380448.5 | c.931C>G | p.Leu311Val | missense_variant, splice_region_variant | 11/11 | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.113 AC: 17147AN: 152034Hom.: 1182 Cov.: 32
GnomAD3 exomes AF: 0.136 AC: 34141AN: 250340Hom.: 2704 AF XY: 0.135 AC XY: 18232AN XY: 135368
GnomAD4 exome AF: 0.141 AC: 203908AN: 1441416Hom.: 15344 Cov.: 30 AF XY: 0.140 AC XY: 100360AN XY: 718294
GnomAD4 genome ? AF: 0.113 AC: 17163AN: 152152Hom.: 1185 Cov.: 32 AF XY: 0.113 AC XY: 8388AN XY: 74380
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 27, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at