NM_052947.4(ALPK2):c.695A>G (p.His232Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 11, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004522493.1

Allele description [Variation Report for NM_052947.4(ALPK2):c.695A>G (p.His232Arg)]

NM_052947.4(ALPK2):c.695A>G (p.His232Arg)

Genes:

LOC114803473:ALPK2 eExon liver enhancer [Gene]
ALPK2:alpha kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

Preferred name:

NM_052947.4(ALPK2):c.695A>G (p.His232Arg)

HGVS:

NC_000018.10:g.58580081T>C
NG_064649.1:g.635T>C
NM_052947.4:c.695A>GMANE SELECT
NP_443179.3:p.His232Arg
NC_000018.9:g.56247313T>C
NM_052947.3:c.695A>G

Protein change:

H232R

Molecular consequence:

NM_052947.4:c.695A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus kelch domain containing 7A (Klhdc7a), mRNA
Mus musculus kelch domain containing 7A (Klhdc7a), mRNA
gi|116063541|ref|NM_173427.2|

Nucleotide
Cryaa crystallin, alpha A [Mus musculus]
Cryaa crystallin, alpha A [Mus musculus]
Gene ID:12954

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005030194	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 11, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005030194

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 11, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005030194.1

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

Description

The p.H232R variant (also known as c.695A>G), located in coding exon 3 of the ALPK2 gene, results from an A to G substitution at nucleotide position 695. The histidine at codon 232 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

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