7-134448018-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001628.4(AKR1B1):c.703A>G(p.Lys235Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,434 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001628.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKR1B1 | NM_001628.4 | c.703A>G | p.Lys235Glu | missense_variant | Exon 7 of 10 | ENST00000285930.9 | NP_001619.1 | |
AKR1B1 | NM_001346142.1 | c.271A>G | p.Lys91Glu | missense_variant | Exon 7 of 10 | NP_001333071.1 | ||
AKR1B1 | NR_144376.2 | n.741A>G | non_coding_transcript_exon_variant | Exon 7 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461434Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726872
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.703A>G (p.K235E) alteration is located in exon 7 (coding exon 7) of the AKR1B1 gene. This alteration results from a A to G substitution at nucleotide position 703, causing the lysine (K) at amino acid position 235 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.