17-8316081-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173728.4(ARHGEF15):c.1637G>T(p.Arg546Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,450,688 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R546P) has been classified as Likely benign.
Frequency
Consequence
NM_173728.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGEF15 | NM_173728.4 | c.1637G>T | p.Arg546Leu | missense_variant | 9/16 | ENST00000361926.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGEF15 | ENST00000361926.8 | c.1637G>T | p.Arg546Leu | missense_variant | 9/16 | 1 | NM_173728.4 | P1 | |
ARHGEF15 | ENST00000421050.2 | c.1637G>T | p.Arg546Leu | missense_variant | 9/16 | 1 | P1 | ||
ARHGEF15 | ENST00000647883.1 | c.1100G>T | p.Arg367Leu | missense_variant | 6/13 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000426 AC: 1AN: 234688Hom.: 0 AF XY: 0.00000776 AC XY: 1AN XY: 128918
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450688Hom.: 0 Cov.: 33 AF XY: 0.00000139 AC XY: 1AN XY: 721996
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at