11-65321418-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006779.4(CDC42EP2):c.520C>G(p.Leu174Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006779.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDC42EP2 | ENST00000279249.3 | c.520C>G | p.Leu174Val | missense_variant | Exon 2 of 2 | 1 | NM_006779.4 | ENSP00000279249.2 | ||
ENSG00000285816 | ENST00000649896.1 | n.*846C>G | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000498025.1 | |||||
ENSG00000285816 | ENST00000649896.1 | n.*846C>G | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000498025.1 | |||||
CDC42EP2 | ENST00000533419.1 | c.520C>G | p.Leu174Val | missense_variant | Exon 2 of 2 | 3 | ENSP00000431660.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.520C>G (p.L174V) alteration is located in exon 2 (coding exon 1) of the CDC42EP2 gene. This alteration results from a C to G substitution at nucleotide position 520, causing the leucine (L) at amino acid position 174 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.