rs1000076660
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021913.5(AXL):c.80C>A(p.Pro27His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000276 in 1,451,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P27L) has been classified as Uncertain significance.
Frequency
Consequence
NM_021913.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AXL | ENST00000301178.9 | c.80C>A | p.Pro27His | missense_variant | Exon 1 of 20 | 1 | NM_021913.5 | ENSP00000301178.3 | ||
AXL | ENST00000359092.7 | c.80C>A | p.Pro27His | missense_variant | Exon 1 of 19 | 1 | ENSP00000351995.2 | |||
AXL | ENST00000599659.5 | n.94C>A | non_coding_transcript_exon_variant | Exon 1 of 12 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1451864Hom.: 0 Cov.: 38 AF XY: 0.00000139 AC XY: 1AN XY: 721334
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at