chr20-56390845-C-A

Position:

• chr20-56390845-C-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_198437.3(AURKA):​c.-6+1323G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.147 in 152,174 control chromosomes in the GnomAD database, including 2,194 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.15 (2194 hom., cov: 33)
• Consequence: AURKA NM_198437.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0720

Genes affected

AURKA (HGNC:11393): (aurora kinase A) The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.209 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
AURKA	NM_198437.3	c.-6+1323G>T		intron_variant		ENST00000395915.8	NP_940839.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
AURKA	ENST00000395915.8	c.-6+1323G>T		intron_variant		1	NM_198437.3	ENSP00000379251	P1

Frequencies

GnomAD3 genomes AF: 0.147 AC: 22313 AN: 152056 Hom.: 2192 Cov.: 33

Gnomad AFR AF: 0.0467

Gnomad AMI AF: 0.259

Gnomad AMR AF: 0.156

Gnomad ASJ AF: 0.302

Gnomad EAS AF: 0.0218

Gnomad SAS AF: 0.157

Gnomad FIN AF: 0.0964

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.212

Gnomad OTH AF: 0.171

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.147 AC: 22309 AN: 152174 Hom.: 2194 Cov.: 33 AF XY: 0.142 AC XY: 10562 AN XY: 74390

Gnomad4 AFR AF: 0.0466

Gnomad4 AMR AF: 0.156

Gnomad4 ASJ AF: 0.302

Gnomad4 EAS AF: 0.0216

Gnomad4 SAS AF: 0.157

Gnomad4 FIN AF: 0.0964

Gnomad4 NFE AF: 0.212

Gnomad4 OTH AF: 0.171

Alfa AF: 0.201 Hom.: 4937

Bravo AF: 0.145

Asia WGS AF: 0.105 AC: 366 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.5
DANN	Benign	0.67
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1468055; hg19: chr20-54965901;