NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 10, 2017
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:: RCV000665662.1

Allele description [Variation Report for NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)]

NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)

Gene:

G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)

HGVS:

NC_000017.11:g.42900928_42900943dup
NG_011808.1:g.5131_5146dup
NM_000151.4:c.52_67dupMANE SELECT
NM_001270397.2:c.52_67dup
NP_000142.2:p.Tyr23fs
NP_001257326.1:p.Tyr23fs
LRG_147:g.5131_5146dup
NC_000017.10:g.41052945_41052960dup

Protein change:

Y23fs

Links:

dbSNP: rs1555558920

NCBI 1000 Genomes Browser:

rs1555558920

Molecular consequence:

NM_000151.4:c.52_67dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001270397.2:c.52_67dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
Synonyms:: GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200

Recent activity

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PREDICTED: Papio anubis aldehyde dehydrogenase 3 family member B1 (ALDH3B1), tra...
PREDICTED: Papio anubis aldehyde dehydrogenase 3 family member B1 (ALDH3B1), transcript variant X5, mRNA
gi|1777266910|ref|XM_017948195.3|

Nucleotide
Mus musculus zinc finger CCCH type, antiviral 1 (Zc3hav1), transcript variant 1,...
Mus musculus zinc finger CCCH type, antiviral 1 (Zc3hav1), transcript variant 1, mRNA
gi|227116321|ref|NM_028421.1|

Nucleotide
Homo sapiens Kv channel interacting protein 3, calsenilin, mRNA (cDNA clone MGC:...
Homo sapiens Kv channel interacting protein 3, calsenilin, mRNA (cDNA clone MGC:18289 IMAGE:4179275), complete cds
gi|15277494|gb|BC012850.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789819	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Oct 10, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789819

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Oct 10, 2017)

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 Counsyl, SCV000789819.1

#	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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