NC_000015.10:g.84817021C>G AND not specified

Germline classification:: Benign (2 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000435059.13

Allele description [Variation Report for NC_000015.10:g.84817021C>G]

NC_000015.10:g.84817021C>G

Gene:

ALPK3:alpha kinase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.3

Genomic location:

Preferred name:

NC_000015.10:g.84817021C>G

HGVS:

NC_000015.10:g.84817021C>G
NG_054748.1:g.5391C>G
NG_131987.1:g.668C>G
NM_020778.4:c.175C>G
NP_065829.3:p.Arg59Gly
NC_000015.9:g.85360252C>G

Links:

dbSNP: rs115389253

NCBI 1000 Genomes Browser:

rs115389253

Molecular consequence:

NM_020778.4:c.175C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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NADH dehydrogenase subunit 4L (mitochondrion) [Romerolagus diazi]
NADH dehydrogenase subunit 4L (mitochondrion) [Romerolagus diazi]
gi|2312613461|ref|YP_010489146.1|

Protein
Oryza rufipogon cultivar W2003 putative NB-ARC domain-containing protein gene, p...
Oryza rufipogon cultivar W2003 putative NB-ARC domain-containing protein gene, partial cds
gi|156600279|gb|EF642385.1|

Nucleotide
Uncultured Bacteroidetes bacterium clone MPWIC_A10 16S ribosomal RNA gene, parti...
Uncultured Bacteroidetes bacterium clone MPWIC_A10 16S ribosomal RNA gene, partial sequence
gi|148614084|gb|EF414222.1|

Nucleotide
NADH dehydrogenase subunit I, partial (mitochondrion) [Peronospora sp.]
NADH dehydrogenase subunit I, partial (mitochondrion) [Peronospora sp.]
gi|2812785111|gb|XHN97520.1|

Protein
oocyte maturation factor Mos, partial [Batagur borneoensis]
oocyte maturation factor Mos, partial [Batagur borneoensis]
gi|169639328|gb|ACA60754.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001919347	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001975711	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001919347

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

SCV001975711

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001919347.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001975711.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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