NM_020778.5(ALPK3):c.1417del (p.Gln473fs) AND Cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 1, 2016
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:: RCV000490678.1

Allele description [Variation Report for NM_020778.5(ALPK3):c.1417del (p.Gln473fs)]

NM_020778.5(ALPK3):c.1417del (p.Gln473fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

15q25.3

Genomic location:

Preferred name:

NM_020778.5(ALPK3):c.1417del (p.Gln473fs)

HGVS:

NC_000015.10:g.84840696del
NG_054748.1:g.29066del
NG_056142.1:g.34del
NM_020778.5:c.1417delMANE SELECT
NP_065829.4:p.Gln473fs
NC_000015.9:g.85383922del
NC_000015.9:g.85383927del
NM_020778.4:c.2023delC

Protein change:

Q473fs

Links:

dbSNP: rs769139957

NCBI 1000 Genomes Browser:

rs769139957

Molecular consequence:

NM_020778.5:c.1417del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000540917	Caglayan Lab, Istanbul Bilim University	no assertion criteria provided	Likely pathogenic (Apr 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000540917

Caglayan Lab, Istanbul Bilim University

no assertion criteria provided

Likely pathogenic
(Apr 1, 2016)

germline

research

PubMed (1)
[See all records that cite this PMID]

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	research

Citations

PubMed

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). doi:pii: a001859. 10.1101/mcs.a001859. Print 2017 Sep.

PubMed [citation]

PMID:: 28630369
PMCID:: PMC5593152

Details of each submission

From Caglayan Lab, Istanbul Bilim University, SCV000540917.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (1)

#	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: Oct 13, 2024

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