chr20-45309619-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014276.4(RBPJL):c.184C>A(p.Gln62Lys) 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. 15/21 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.184C>A | p.Gln62Lys | missense_variant | 3/12 | ENST00000343694.8 | |
RBPJL | NM_001281449.2 | c.184C>A | p.Gln62Lys | missense_variant | 3/12 | ||
RBPJL | NM_001281448.2 | c.184C>A | p.Gln62Lys | missense_variant | 3/12 | ||
RBPJL | XM_011528522.3 | c.184C>A | p.Gln62Lys | missense_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBPJL | ENST00000343694.8 | c.184C>A | p.Gln62Lys | missense_variant | 3/12 | 1 | NM_014276.4 | A1 | |
RBPJL | ENST00000372743.5 | c.184C>A | p.Gln62Lys | missense_variant | 3/12 | 1 | P4 | ||
RBPJL | ENST00000372741.7 | c.184C>A | p.Gln62Lys | missense_variant | 3/12 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 24, 2024 | The c.184C>A (p.Q62K) alteration is located in exon 3 (coding exon 3) of the RBPJL gene. This alteration results from a C to A substitution at nucleotide position 184, causing the glutamine (Q) at amino acid position 62 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
Publications
No publications associated with this variant yet.