rs749123022
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_001015878.2(AURKC):c.94_101delAGCCCAGC(p.Ser32HisfsTer8) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000205 in 1,613,434 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00014 ( 0 hom., cov: 31)
Exomes 𝑓: 0.00021 ( 0 hom. )
Consequence
AURKC
NM_001015878.2 frameshift
NM_001015878.2 frameshift
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.36
Genes affected
AURKC (HGNC:11391): (aurora kinase C) This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
PVS1
Loss of function variant, product does not undergo nonsense mediated mRNA decay. Variant located near the start codon (<100nt), not predicted to undergo nonsense mediated mRNA decay. Fraction of 0.899 CDS is truncated, and there are 1 pathogenic variants in the truncated region.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AURKC | NM_001015878.2 | c.94_101delAGCCCAGC | p.Ser32HisfsTer8 | frameshift_variant | Exon 2 of 7 | ENST00000302804.12 | NP_001015878.1 | |
AURKC | NM_001015879.2 | c.37_44delAGCCCAGC | p.Ser13HisfsTer8 | frameshift_variant | Exon 2 of 7 | NP_001015879.1 | ||
AURKC | XM_047439253.1 | c.94_101delAGCCCAGC | p.Ser32HisfsTer8 | frameshift_variant | Exon 2 of 5 | XP_047295209.1 | ||
AURKC | NM_003160.3 | c.-9_-2delAGCCCAGC | 5_prime_UTR_variant | Exon 2 of 7 | NP_003151.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000139 AC: 21AN: 151432Hom.: 0 Cov.: 31
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GnomAD3 exomes AF: 0.000148 AC: 37AN: 250472Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135450
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GnomAD4 exome AF: 0.000212 AC: 310AN: 1461884Hom.: 0 AF XY: 0.000223 AC XY: 162AN XY: 727244
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GnomAD4 genome AF: 0.000139 AC: 21AN: 151550Hom.: 0 Cov.: 31 AF XY: 0.000122 AC XY: 9AN XY: 74016
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at