4-786570-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006651.4(CPLX1):āc.336G>Cā(p.Glu112Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000807 in 1,609,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006651.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CPLX1 | NM_006651.4 | c.336G>C | p.Glu112Asp | missense_variant | 4/4 | ENST00000304062.11 | |
CPLX1 | XM_011513391.2 | c.291G>C | p.Glu97Asp | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPLX1 | ENST00000304062.11 | c.336G>C | p.Glu112Asp | missense_variant | 4/4 | 1 | NM_006651.4 | P1 | |
CPLX1 | ENST00000505203.1 | c.273G>C | p.Glu91Asp | missense_variant | 5/5 | 2 | |||
CPLX1 | ENST00000504062.1 | c.291G>C | p.Glu97Asp | missense_variant | 3/3 | 3 | |||
CPLX1 | ENST00000506404.1 | n.389G>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152068Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000413 AC: 1AN: 242232Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131688
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1457926Hom.: 0 Cov.: 36 AF XY: 0.00000552 AC XY: 4AN XY: 725026
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152068Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at