rs374821227
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001666.5(ARHGAP4):c.2409C>T(p.Pro803Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000168 in 1,187,801 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 54 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001666.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000116 AC: 13AN: 112395Hom.: 0 Cov.: 24 AF XY: 0.0000289 AC XY: 1AN XY: 34559
GnomAD3 exomes AF: 0.0000793 AC: 11AN: 138757Hom.: 0 AF XY: 0.000105 AC XY: 4AN XY: 38231
GnomAD4 exome AF: 0.000174 AC: 187AN: 1075406Hom.: 0 Cov.: 35 AF XY: 0.000152 AC XY: 53AN XY: 347584
GnomAD4 genome AF: 0.000116 AC: 13AN: 112395Hom.: 0 Cov.: 24 AF XY: 0.0000289 AC XY: 1AN XY: 34559
ClinVar
Submissions by phenotype
not provided Benign:1
ARHGAP4: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at