17-45404486-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001282290.2(ARHGAP27):c.1372G>C(p.Asp458His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,436 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282290.2 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 |
---|---|---|---|---|---|---|---|
ARHGAP27 | NM_001282290.2 | c.1372G>C | p.Asp458His | missense_variant | 8/20 | ENST00000685559.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP27 | ENST00000685559.1 | c.1372G>C | p.Asp458His | missense_variant | 8/20 | NM_001282290.2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250764Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135580
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461436Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 727038
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 06, 2023 | The c.349G>C (p.D117H) alteration is located in exon 5 (coding exon 4) of the ARHGAP27 gene. This alteration results from a G to C substitution at nucleotide position 349, causing the aspartic acid (D) at amino acid position 117 to be replaced by a histidine (H). 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