NM_000294.3(PHKG2):c.657del (p.Cys219fs) AND Glycogen storage disease IXc

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000989594.1

Allele description [Variation Report for NM_000294.3(PHKG2):c.657del (p.Cys219fs)]

NM_000294.3(PHKG2):c.657del (p.Cys219fs)

Gene:

PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_000294.3(PHKG2):c.657del (p.Cys219fs)

HGVS:

NC_000016.10:g.30756376del
NG_016616.1:g.13078del
NG_016616.2:g.13078del
NM_000294.3:c.657delMANE SELECT
NM_001172432.2:c.657del
NP_000285.1:p.Cys219fs
NP_001165903.1:p.Cys219fs
NC_000016.9:g.30767697del
NC_000016.9:g.30767697delT

Protein change:

C219fs

Links:

dbSNP: rs1596687555

NCBI 1000 Genomes Browser:

rs1596687555

Molecular consequence:

NM_000294.3:c.657del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172432.2:c.657del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Glycogen storage disease IXc (GSD9C)
Synonyms:: GSD IXc
Identifiers:: MONDO: MONDO:0013091; MedGen: C2751643; Orphanet: 264580; OMIM: 613027

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001140092	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001140092

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140092.1

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

Last Updated: Apr 23, 2022

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