NM_000292.3(PHKA2):c.395A>C (p.His132Pro) AND Glycogen storage disease IXa1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002247324.1

Allele description [Variation Report for NM_000292.3(PHKA2):c.395A>C (p.His132Pro)]

NM_000292.3(PHKA2):c.395A>C (p.His132Pro)

Gene:

PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_000292.3(PHKA2):c.395A>C (p.His132Pro)

HGVS:

NC_000023.11:g.18951163T>G
NG_016622.1:g.38200A>C
NM_000292.3:c.395A>CMANE SELECT
NP_000283.1:p.His132Pro
NC_000023.10:g.18969281T>G
P46019:p.His132Pro

Protein change:

H132P; HIS132PRO

Links:

UniProtKB: P46019#VAR_006177; OMIM: 300798.0009; dbSNP: rs137852291

NCBI 1000 Genomes Browser:

rs137852291

Molecular consequence:

NM_000292.3:c.395A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glycogen storage disease IXa1
Synonyms:: LIVER GLYCOGENOSIS, X-LINKED, TYPE I; GSD VIII; Glycogen storage disease 8; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010598; MedGen: C3694531; Orphanet: 264580; OMIM: 306000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002518843	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002518843

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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 Mendelics, SCV002518843.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 28, 2022

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