rs75263140
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_153498.4(CAMK1D):c.225-6166A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0264 in 152,284 control chromosomes in the GnomAD database, including 75 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 0.026 ( 75 hom., cov: 32)
Consequence
CAMK1D
NM_153498.4 intron
NM_153498.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.73
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.97).
BS1
?
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.0264 (4023/152284) while in subpopulation SAS AF= 0.0485 (234/4824). AF 95% confidence interval is 0.0434. There are 75 homozygotes in gnomad4. There are 2025 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High AC in GnomAd at 4020 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAMK1D | NM_153498.4 | c.225-6166A>G | intron_variant | ENST00000619168.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMK1D | ENST00000619168.5 | c.225-6166A>G | intron_variant | 1 | NM_153498.4 | P1 | |||
CAMK1D | ENST00000378845.5 | c.225-6166A>G | intron_variant | 1 | |||||
CAMK1D | ENST00000487696.1 | n.260-6166A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0264 AC: 4020AN: 152166Hom.: 76 Cov.: 32
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GnomAD4 genome ? AF: 0.0264 AC: 4023AN: 152284Hom.: 75 Cov.: 32 AF XY: 0.0272 AC XY: 2025AN XY: 74452
GnomAD4 genome
?
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63
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at