chr4-144995386-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001256706.2(ANAPC10):c.545G>A(p.Arg182His) variant causes a missense change. The variant allele was found at a frequency of 0.00000344 in 1,454,990 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_001256706.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANAPC10 | ENST00000507656.6 | c.545G>A | p.Arg182His | missense_variant | Exon 5 of 5 | 1 | NM_001256706.2 | ENSP00000423995.1 | ||
ENSG00000285713 | ENST00000649263.1 | n.327+69186G>A | intron_variant | Intron 4 of 8 | ENSP00000497507.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1454990Hom.: 0 Cov.: 29 AF XY: 0.00000414 AC XY: 3AN XY: 724238
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.545G>A (p.R182H) alteration is located in exon 5 (coding exon 4) of the ANAPC10 gene. This alteration results from a G to A substitution at nucleotide position 545, causing the arginine (R) at amino acid position 182 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