chr19-44780978-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012116.4(CBLC):c.427A>G(p.Lys143Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,486 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_012116.4 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 |
---|---|---|---|---|---|---|---|
CBLC | NM_012116.4 | c.427A>G | p.Lys143Glu | missense_variant | 2/11 | ENST00000647358.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CBLC | ENST00000647358.2 | c.427A>G | p.Lys143Glu | missense_variant | 2/11 | NM_012116.4 | P1 | ||
CBLC | ENST00000341505.4 | c.427A>G | p.Lys143Glu | missense_variant | 2/10 | 1 | |||
CBLC | ENST00000647063.1 | c.55A>G | p.Lys19Glu | missense_variant, NMD_transcript_variant | 1/6 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251064Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135792
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461260Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726920
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 20, 2023 | The c.427A>G (p.K143E) alteration is located in exon 2 (coding exon 2) of the CBLC gene. This alteration results from a A to G substitution at nucleotide position 427, causing the lysine (K) at amino acid position 143 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