NM_001162383.2:c.2280C>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001162383.2(ARHGEF2):c.2280C>A(p.Asp760Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000275 in 1,453,796 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 (★).
Frequency
Consequence
NM_001162383.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000835 AC: 2AN: 239422Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130974
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1453796Hom.: 0 Cov.: 32 AF XY: 0.00000416 AC XY: 3AN XY: 721838
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2280C>A (p.D760E) alteration is located in exon 20 (coding exon 20) of the ARHGEF2 gene. This alteration results from a C to A substitution at nucleotide position 2280, causing the aspartic acid (D) at amino acid position 760 to be replaced by a glutamic acid (E). 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