NM_000293.3(PHKB):c.2273del (p.Lys758fs) AND Glycogen storage disease IXb

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 27, 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:: RCV001782614.4

Allele description [Variation Report for NM_000293.3(PHKB):c.2273del (p.Lys758fs)]

NM_000293.3(PHKB):c.2273del (p.Lys758fs)

Gene:

PHKB:phosphorylase kinase regulatory subunit beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q12.1

Genomic location:

Preferred name:

NM_000293.3(PHKB):c.2273del (p.Lys758fs)

HGVS:

NC_000016.10:g.47661795del
NG_016598.1:g.205497del
NM_000293.3:c.2273delMANE SELECT
NM_001031835.3:c.2252del
NM_001363837.1:c.2273del
NP_000284.1:p.Lys758fs
NP_001027005.1:p.Lys751fs
NP_001350766.1:p.Lys758fs
NC_000016.9:g.47695706del

Protein change:

K751fs

Links:

dbSNP: rs2151737344

NCBI 1000 Genomes Browser:

rs2151737344

Molecular consequence:

NM_000293.3:c.2273del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001031835.3:c.2252del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363837.1:c.2273del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Glycogen storage disease IXb (GSD9B)
Synonyms:: GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE; GSD IXb; PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0009868; MedGen: C0543514; Orphanet: 79240; OMIM: 261750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002024604	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 27, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002024604

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 27, 2021)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002024604.3

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

#	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: Mar 16, 2024

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