1-77293835-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_174858.3(AK5):c.290G>A(p.Arg97Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,611,356 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R97W) has been classified as Uncertain significance.
Frequency
Consequence
NM_174858.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AK5 | NM_174858.3 | c.290G>A | p.Arg97Gln | missense_variant | 3/14 | ENST00000354567.7 | NP_777283.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AK5 | ENST00000354567.7 | c.290G>A | p.Arg97Gln | missense_variant | 3/14 | 1 | NM_174858.3 | ENSP00000346577.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151998Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248534Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134320
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459358Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725842
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151998Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74224
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2022 | The c.290G>A (p.R97Q) alteration is located in exon 3 (coding exon 3) of the AK5 gene. This alteration results from a G to A substitution at nucleotide position 290, causing the arginine (R) at amino acid position 97 to be replaced by a glutamine (Q). 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