rs1047972
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_198437.3(AURKA):āc.169A>Gā(p.Ile57Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.844 in 1,613,986 control chromosomes in the GnomAD database, including 575,145 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_198437.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AURKA | NM_198437.3 | c.169A>G | p.Ile57Val | missense_variant | 3/9 | ENST00000395915.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AURKA | ENST00000395915.8 | c.169A>G | p.Ile57Val | missense_variant | 3/9 | 1 | NM_198437.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.844 AC: 128366AN: 152010Hom.: 54229 Cov.: 31
GnomAD3 exomes AF: 0.851 AC: 213970AN: 251486Hom.: 91168 AF XY: 0.848 AC XY: 115283AN XY: 135920
GnomAD4 exome AF: 0.844 AC: 1233537AN: 1461858Hom.: 520862 Cov.: 88 AF XY: 0.844 AC XY: 613833AN XY: 727230
GnomAD4 genome ? AF: 0.845 AC: 128476AN: 152128Hom.: 54283 Cov.: 31 AF XY: 0.843 AC XY: 62696AN XY: 74386
ClinVar
Submissions by phenotype
AURKA-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at