chr18-23135800-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001100619.3(CABLES1):c.38G>A(p.Cys13Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 146,522 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001100619.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CABLES1 | NM_001100619.3 | c.38G>A | p.Cys13Tyr | missense_variant | 1/10 | ENST00000256925.12 | |
CABLES1 | NM_001256438.1 | c.-137+1130G>A | intron_variant | ||||
CABLES1 | NR_023359.2 | n.88+1149G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CABLES1 | ENST00000256925.12 | c.38G>A | p.Cys13Tyr | missense_variant | 1/10 | 1 | NM_001100619.3 | ||
CABLES1 | ENST00000400473.6 | c.-137+1130G>A | intron_variant | 2 | P1 | ||||
CABLES1 | ENST00000580153.5 | c.-221+255G>A | intron_variant | 5 | |||||
CABLES1 | ENST00000579963.5 | c.-137+1149G>A | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000682 AC: 1AN: 146522Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 823646Hom.: 0 Cov.: 16 AF XY: 0.00 AC XY: 0AN XY: 382036
GnomAD4 genome ? AF: 0.00000682 AC: 1AN: 146522Hom.: 0 Cov.: 32 AF XY: 0.0000140 AC XY: 1AN XY: 71266
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 12, 2023 | The c.38G>A (p.C13Y) alteration is located in exon 1 (coding exon 1) of the CABLES1 gene. This alteration results from a G to A substitution at nucleotide position 38, causing the cysteine (C) at amino acid position 13 to be replaced by a tyrosine (Y). 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