rs117035284
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001081.4(CUBN):āc.9340G>Cā(p.Gly3114Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000103 in 1,461,818 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G3114S) has been classified as Likely benign.
Frequency
Consequence
NM_001081.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CUBN | NM_001081.4 | c.9340G>C | p.Gly3114Arg | missense_variant | 59/67 | ENST00000377833.10 | |
CUBN | XM_011519709.3 | c.5326G>C | p.Gly1776Arg | missense_variant | 33/41 | ||
CUBN | XM_011519710.3 | c.5302G>C | p.Gly1768Arg | missense_variant | 33/41 | ||
CUBN | XM_011519711.4 | c.5182G>C | p.Gly1728Arg | missense_variant | 32/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CUBN | ENST00000377833.10 | c.9340G>C | p.Gly3114Arg | missense_variant | 59/67 | 1 | NM_001081.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251308Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135824
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461818Hom.: 0 Cov.: 33 AF XY: 0.00000825 AC XY: 6AN XY: 727218
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at