rs945508
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198236.3(ARHGEF11):c.4400A>T(p.His1467Leu) 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. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_198236.3 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 |
---|---|---|---|---|---|---|---|
ARHGEF11 | NM_198236.3 | c.4400A>T | p.His1467Leu | missense_variant | 39/41 | ENST00000368194.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGEF11 | ENST00000368194.8 | c.4400A>T | p.His1467Leu | missense_variant | 39/41 | 1 | NM_198236.3 | P3 | |
ARHGEF11 | ENST00000361409.2 | c.4280A>T | p.His1427Leu | missense_variant | 38/40 | 1 | A2 | ||
ARHGEF11 | ENST00000487682.5 | n.3352A>T | non_coding_transcript_exon_variant | 8/10 | 2 | ||||
ARHGEF11 | ENST00000492592.1 | n.634A>T | non_coding_transcript_exon_variant | 4/5 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 60
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at