1-155952658-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001162383.2(ARHGEF2):c.1954G>A(p.Glu652Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000192 in 1,460,932 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251000Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135666
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1460932Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 726600
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1954G>A (p.E652K) alteration is located in exon 15 (coding exon 15) of the ARHGEF2 gene. This alteration results from a G to A substitution at nucleotide position 1954, causing the glutamic acid (E) at amino acid position 652 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