rs1004247

Variant names:

• chr10-12644488-G-A
• rs1004247
• NM_153498.4:c.225-22248G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_153498.4(CAMK1D):​c.225-22248G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.118 in 152,064 control chromosomes in the GnomAD database, including 1,244 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 0.12 (1244 hom., cov: 32)
• Consequence: CAMK1D NM_153498.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.241
• Publications: 3 publications found

Genes affected

CAMK1D (HGNC:19341): (calcium/calmodulin dependent protein kinase ID) This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.19 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CAMK1D	NM_153498.4	c.225-22248G>A		intron_variant	Intron 2 of 10	ENST00000619168.5	NP_705718.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CAMK1D	ENST00000619168.5	c.225-22248G>A		intron_variant	Intron 2 of 10	1	NM_153498.4	ENSP00000478874.1
CAMK1D	ENST00000378845.5	c.225-22248G>A		intron_variant	Intron 2 of 9	1		ENSP00000368122.1
CAMK1D	ENST00000487696.1	n.260-22248G>A		intron_variant	Intron 1 of 1	3

Frequencies

GnomAD3 genomes AF: 0.118 AC: 17878 AN: 151946 Hom.: 1240 Cov.: 32

Gnomad AFR AF: 0.193

Gnomad AMI AF: 0.0757

Gnomad AMR AF: 0.0903

Gnomad ASJ AF: 0.138

Gnomad EAS AF: 0.0679

Gnomad SAS AF: 0.0872

Gnomad FIN AF: 0.0649

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0913

Gnomad OTH AF: 0.126

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

GnomAD4 genome AF: 0.118 AC: 17905 AN: 152064 Hom.: 1244 Cov.: 32 AF XY: 0.115 AC XY: 8571 AN XY: 74342

African (AFR) AF: 0.194 AC: 8022 AN: 41444

American (AMR) AF: 0.0902 AC: 1378 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.138 AC: 480 AN: 3468

East Asian (EAS) AF: 0.0676 AC: 350 AN: 5174

South Asian (SAS) AF: 0.0862 AC: 415 AN: 4812

European-Finnish (FIN) AF: 0.0649 AC: 687 AN: 10586

Middle Eastern (MID) AF: 0.0748 AC: 22 AN: 294

European-Non Finnish (NFE) AF: 0.0913 AC: 6208 AN: 67980

Other (OTH) AF: 0.130 AC: 274 AN: 2112

Alfa AF: 0.101 Hom.: 1308

Bravo AF: 0.121

Asia WGS AF: 0.0920 AC: 319 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	0.69
DANN	Benign	0.44
PhyloP100		-0.24
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs1004247; hg19: chr10-12686487;