chr10-118754480-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153810.5(CACUL1):c.283G>C(p.Asp95His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,611,540 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153810.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACUL1 | ENST00000369151.8 | c.283G>C | p.Asp95His | missense_variant | Exon 1 of 9 | 1 | NM_153810.5 | ENSP00000358147.2 | ||
CACUL1 | ENST00000493518.5 | n.283G>C | non_coding_transcript_exon_variant | Exon 1 of 10 | 1 | ENSP00000431329.1 | ||||
CACUL1 | ENST00000477583.1 | n.-3G>C | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152108Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240154Hom.: 0 AF XY: 0.00000761 AC XY: 1AN XY: 131408
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459432Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 725956
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152108Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.283G>C (p.D95H) alteration is located in exon 1 (coding exon 1) of the CACUL1 gene. This alteration results from a G to C substitution at nucleotide position 283, causing the aspartic acid (D) at amino acid position 95 to be replaced by a histidine (H). 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