NM_000293.3(PHKB):c.2427+1001A>G AND Glycogen storage disease IXb

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 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:: RCV003142450.1

Allele description [Variation Report for NM_000293.3(PHKB):c.2427+1001A>G]

NM_000293.3(PHKB):c.2427+1001A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

Preferred name:

NM_000293.3(PHKB):c.2427+1001A>G

HGVS:

NC_000016.10:g.47665976A>G
NG_016598.1:g.209678A>G
NM_000293.3:c.2427+1001A>GMANE SELECT
NM_001031835.3:c.2350A>G
NM_001363837.1:c.2371A>G
NP_001027005.1:p.Lys784Glu
NP_001350766.1:p.Lys791Glu
NC_000016.9:g.47699887A>G

Protein change:

K784E

Molecular consequence:

NM_000293.3:c.2427+1001A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001031835.3:c.2350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363837.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV003806891	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 31, 2022)	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

SCV003806891

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 31, 2022)

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	yes	1	not provided	not provided	1	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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003806891.1

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

Description

ACMG classification criteria: PM2 moderated

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 11, 2023

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