chr20-45311650-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014276.4(RBPJL):c.319C>G(p.Gln107Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,168 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014276.4 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 |
---|---|---|---|---|---|---|---|
RBPJL | NM_014276.4 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 | ENST00000343694.8 | |
RBPJL | NM_001281449.2 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 | ||
RBPJL | NM_001281448.2 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 | ||
RBPJL | XM_011528522.3 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBPJL | ENST00000343694.8 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 | 1 | NM_014276.4 | A1 | |
RBPJL | ENST00000372743.5 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 | 1 | P4 | ||
RBPJL | ENST00000372741.7 | c.319C>G | p.Gln107Glu | missense_variant | 4/12 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251170Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135806
GnomAD4 exome Cov.: 31
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 14, 2024 | The c.319C>G (p.Q107E) alteration is located in exon 4 (coding exon 4) of the RBPJL gene. This alteration results from a C to G substitution at nucleotide position 319, causing the glutamine (Q) at amino acid position 107 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