4-70335902-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033122.4(CABS1):c.863A>G(p.Asp288Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,526 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_033122.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CABS1 | NM_033122.4 | c.863A>G | p.Asp288Gly | missense_variant | 1/2 | ENST00000273936.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CABS1 | ENST00000273936.6 | c.863A>G | p.Asp288Gly | missense_variant | 1/2 | 1 | NM_033122.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152018Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250836Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135546
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461508Hom.: 0 Cov.: 36 AF XY: 0.0000330 AC XY: 24AN XY: 727074
GnomAD4 genome ? AF: 0.0000592 AC: 9AN: 152018Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74250
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 08, 2023 | The c.863A>G (p.D288G) alteration is located in exon 1 (coding exon 1) of the CABS1 gene. This alteration results from a A to G substitution at nucleotide position 863, causing the aspartic acid (D) at amino acid position 288 to be replaced by a glycine (G). 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