chr19-44794216-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012116.4(CBLC):c.1297G>T(p.Ala433Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,611,316 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_012116.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CBLC | NM_012116.4 | c.1297G>T | p.Ala433Ser | missense_variant | 9/11 | ENST00000647358.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CBLC | ENST00000647358.2 | c.1297G>T | p.Ala433Ser | missense_variant | 9/11 | NM_012116.4 | P1 | ||
CBLC | ENST00000341505.4 | c.1159G>T | p.Ala387Ser | missense_variant | 8/10 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000921 AC: 14AN: 151944Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 248396Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134396
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459256Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726004
GnomAD4 genome ? AF: 0.0000921 AC: 14AN: 152060Hom.: 0 Cov.: 30 AF XY: 0.0000807 AC XY: 6AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 07, 2022 | The c.1297G>T (p.A433S) alteration is located in exon 9 (coding exon 9) of the CBLC gene. This alteration results from a G to T substitution at nucleotide position 1297, causing the alanine (A) at amino acid position 433 to be replaced by a serine (S). 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