17-45396997-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001282290.2(ARHGAP27):c.1870G>A(p.Glu624Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,452,224 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E624Q) has been classified 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP27 | NM_001282290.2 | c.1870G>A | p.Glu624Lys | missense_variant | 14/20 | ENST00000685559.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP27 | ENST00000685559.1 | c.1870G>A | p.Glu624Lys | missense_variant | 14/20 | NM_001282290.2 | |||
ENST00000592389.1 | n.66C>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000163 AC: 4AN: 244830Hom.: 0 AF XY: 0.00000752 AC XY: 1AN XY: 132998
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1452224Hom.: 0 Cov.: 33 AF XY: 0.0000166 AC XY: 12AN XY: 722902
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.847G>A (p.E283K) alteration is located in exon 11 (coding exon 10) of the ARHGAP27 gene. This alteration results from a G to A substitution at nucleotide position 847, causing the glutamic acid (E) at amino acid position 283 to be replaced by a lysine (K). 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