rs3764653
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012292.5(ARHGAP45):c.412T>A(p.Leu138Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L138L) has been classified as Benign.
Frequency
Consequence
NM_012292.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP45 | NM_012292.5 | c.412T>A | p.Leu138Met | missense_variant | 2/23 | ENST00000313093.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP45 | ENST00000313093.7 | c.412T>A | p.Leu138Met | missense_variant | 2/23 | 1 | NM_012292.5 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 151476Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Cov.: 40
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151476Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73912
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at