NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 4, 2021
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:: RCV002407044.2

Allele description [Variation Report for NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg)]

NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.3

Genomic location:

Preferred name:

NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg)

HGVS:

NC_000015.10:g.84840583A>G
NG_054748.1:g.28953A>G
NM_020778.5:c.1304A>GMANE SELECT
NP_065829.4:p.Gln435Arg
NC_000015.9:g.85383814A>G
NM_020778.4:c.1910A>G

Protein change:

Q435R

Links:

dbSNP: rs754238381

NCBI 1000 Genomes Browser:

rs754238381

Molecular consequence:

NM_020778.5:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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transformer-2 protein homolog alpha [Rattus norvegicus]
transformer-2 protein homolog alpha [Rattus norvegicus]
gi|471434818|ref|NP_001119768.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002717941	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 4, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002717941

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 4, 2021)

germline

clinical testing

Citation Link

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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, SCV002717941.2

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

Description

The p.Q637R variant (also known as c.1910A>G), located in coding exon 5 of the ALPK3 gene, results from an A to G substitution at nucleotide position 1910. The glutamine at codon 637 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Sep 29, 2024

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