1-19304229-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_003689.4(AKR7A2):c.1076G>A(p.Arg359His) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,614,058 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003689.4 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 |
---|---|---|---|---|---|---|---|---|
AKR7A2 | NM_003689.4 | c.1076G>A | p.Arg359His | missense_variant | Exon 7 of 7 | ENST00000235835.8 | NP_003680.2 | |
AKR7A2 | NM_001320979.1 | c.971G>A | p.Arg324His | missense_variant | Exon 6 of 6 | NP_001307908.1 | ||
LOC124903867 | XR_007065521.1 | n.1258-982C>T | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AKR7A2 | ENST00000235835.8 | c.1076G>A | p.Arg359His | missense_variant | Exon 7 of 7 | 1 | NM_003689.4 | ENSP00000235835.3 | ||
AKR7A2 | ENST00000330072.9 | c.941G>A | p.Arg314His | missense_variant | Exon 6 of 6 | 2 | ENSP00000339084.5 | |||
AKR7A2 | ENST00000489286 | c.*45G>A | 3_prime_UTR_variant | Exon 5 of 5 | 5 | ENSP00000419936.1 | ||||
AKR7A2 | ENST00000481966.1 | n.*376G>A | downstream_gene_variant | 3 | ENSP00000417891.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000954 AC: 24AN: 251480Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135922
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727248
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1076G>A (p.R359H) alteration is located in exon 7 (coding exon 7) of the AKR7A2 gene. This alteration results from a G to A substitution at nucleotide position 1076, causing the arginine (R) at amino acid position 359 to be replaced by a histidine (H). 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