7-107759128-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024814.4(CBLL1):c.1426C>T(p.Pro476Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024814.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CBLL1 | NM_024814.4 | c.1426C>T | p.Pro476Ser | missense_variant | Exon 6 of 6 | ENST00000440859.8 | NP_079090.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CBLL1 | ENST00000440859.8 | c.1426C>T | p.Pro476Ser | missense_variant | Exon 6 of 6 | 1 | NM_024814.4 | ENSP00000401277.2 | ||
CBLL1 | ENST00000222597.7 | c.1423C>T | p.Pro475Ser | missense_variant | Exon 6 of 6 | 1 | ENSP00000222597.2 | |||
CBLL1 | ENST00000698938.1 | c.1462C>T | p.Pro488Ser | missense_variant | Exon 6 of 6 | ENSP00000514046.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250008Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135182
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461602Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727108
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1426C>T (p.P476S) alteration is located in exon 6 (coding exon 6) of the CBLL1 gene. This alteration results from a C to T substitution at nucleotide position 1426, causing the proline (P) at amino acid position 476 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