7-134533043-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000359579.5(AKR1B10):c.391G>A(p.Ala131Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000281 in 1,600,824 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000359579.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKR1B10 | NM_020299.5 | c.391G>A | p.Ala131Thr | missense_variant | 4/10 | ENST00000359579.5 | NP_064695.3 | |
AKR1B10 | XM_047420634.1 | c.391G>A | p.Ala131Thr | missense_variant | 4/9 | XP_047276590.1 | ||
AKR1B10 | XM_011516416.2 | c.274G>A | p.Ala92Thr | missense_variant | 3/9 | XP_011514718.1 | ||
AKR1B10 | XM_011516417.3 | c.391G>A | p.Ala131Thr | missense_variant | 4/5 | XP_011514719.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AKR1B10 | ENST00000359579.5 | c.391G>A | p.Ala131Thr | missense_variant | 4/10 | 1 | NM_020299.5 | ENSP00000352584.4 | ||
AKR1B10 | ENST00000475559.1 | n.683G>A | non_coding_transcript_exon_variant | 4/7 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238034Hom.: 0 AF XY: 0.00000776 AC XY: 1AN XY: 128824
GnomAD4 exome AF: 0.0000276 AC: 40AN: 1448690Hom.: 0 Cov.: 31 AF XY: 0.0000292 AC XY: 21AN XY: 720334
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.391G>A (p.A131T) alteration is located in exon 4 (coding exon 4) of the AKR1B10 gene. This alteration results from a G to A substitution at nucleotide position 391, causing the alanine (A) at amino acid position 131 to be replaced by a threonine (T). 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