11-128969478-G-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_001378024.1(ARHGAP32):c.5735C>T(p.Pro1912Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000146 in 1,614,158 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_001378024.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP32 | NM_001378024.1 | c.5735C>T | p.Pro1912Leu | missense_variant | 23/23 | ENST00000682385.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP32 | ENST00000682385.1 | c.5735C>T | p.Pro1912Leu | missense_variant | 23/23 | NM_001378024.1 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000756 AC: 115AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000195 AC: 49AN: 251486Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135914
GnomAD4 exome AF: 0.0000821 AC: 120AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.0000619 AC XY: 45AN XY: 727248
GnomAD4 genome ? AF: 0.000755 AC: 115AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.000752 AC XY: 56AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 22, 2022 | The c.5693C>T (p.P1898L) alteration is located in exon 22 (coding exon 22) of the ARHGAP32 gene. This alteration results from a C to T substitution at nucleotide position 5693, causing the proline (P) at amino acid position 1898 to be replaced by a leucine (L). 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