12-118158819-A-G

Position:

• chr12-118158819-A-G

Variant summary

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

The NM_016281.4(TAOK3):​c.2352+1327T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.102 in 152,162 control chromosomes in the GnomAD database, including 998 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 0.10 (998 hom., cov: 32)
• Consequence: TAOK3 NM_016281.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.132

Genes affected

TAOK3 (HGNC:18133): (TAO kinase 3) The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]

TAOK3 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.14 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TAOK3	NM_016281.4	c.2352+1327T>C		intron_variant		ENST00000392533.8	NP_057365.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TAOK3	ENST00000392533.8	c.2352+1327T>C		intron_variant		1	NM_016281.4	ENSP00000376317.3

Frequencies

GnomAD3 genomes AF: 0.102 AC: 15474 AN: 152044 Hom.: 997 Cov.: 32

Gnomad AFR AF: 0.0340

Gnomad AMI AF: 0.0626

Gnomad AMR AF: 0.0980

Gnomad ASJ AF: 0.141

Gnomad EAS AF: 0.0104

Gnomad SAS AF: 0.0576

Gnomad FIN AF: 0.165

Gnomad MID AF: 0.158

Gnomad NFE AF: 0.143

Gnomad OTH AF: 0.0917

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

GnomAD4 genome AF: 0.102 AC: 15470 AN: 152162 Hom.: 998 Cov.: 32 AF XY: 0.101 AC XY: 7480 AN XY: 74370

Gnomad4 AFR AF: 0.0339

Gnomad4 AMR AF: 0.0977

Gnomad4 ASJ AF: 0.141

Gnomad4 EAS AF: 0.0104

Gnomad4 SAS AF: 0.0585

Gnomad4 FIN AF: 0.165

Gnomad4 NFE AF: 0.143

Gnomad4 OTH AF: 0.0926

Alfa AF: 0.120 Hom.: 195

Bravo AF: 0.0922

Asia WGS AF: 0.0290 AC: 103 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	4.7
DANN	Benign	0.57

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: rs17440315; hg19: chr12-118596624;