1-19307060-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003689.4(AKR7A2):c.730G>A(p.Gly244Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,614,242 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
NM_003689.4 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 | UniProt |
---|---|---|---|---|---|---|---|
AKR7A2 | NM_003689.4 | c.730G>A | p.Gly244Arg | missense_variant | 5/7 | ENST00000235835.8 | |
AKR7A2 | NM_001320979.1 | c.625G>A | p.Gly209Arg | missense_variant | 4/6 | ||
AKR7A2 | XM_047433095.1 | c.*30G>A | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR7A2 | ENST00000235835.8 | c.730G>A | p.Gly244Arg | missense_variant | 5/7 | 1 | NM_003689.4 | P1 | |
AKR7A2 | ENST00000330072.9 | c.595G>A | p.Gly199Arg | missense_variant | 4/6 | 2 | |||
AKR7A2 | ENST00000489286.5 | c.375-913G>A | intron_variant | 5 | |||||
AKR7A2 | ENST00000481966.1 | c.*30G>A | 3_prime_UTR_variant, NMD_transcript_variant | 3/5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152230Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251496Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135922
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461894Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 727248
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152348Hom.: 0 Cov.: 33 AF XY: 0.0000805 AC XY: 6AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 17, 2023 | The c.730G>A (p.G244R) alteration is located in exon 5 (coding exon 5) of the AKR7A2 gene. This alteration results from a G to A substitution at nucleotide position 730, causing the glycine (G) at amino acid position 244 to be replaced by an arginine (R). 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