NM_000158.4(GBE1):c.200A>G (p.Asp67Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 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:: RCV001906446.4

Allele description [Variation Report for NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)]

NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)

Gene:

GBE1:1,4-alpha-glucan branching enzyme 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p12.2

Genomic location:

Preferred name:

NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)

HGVS:

NC_000003.12:g.81705557T>C
NG_011810.1:g.61244A>G
NM_000158.3:c.200A>G
NM_000158.4:c.200A>GMANE SELECT
NP_000149.4:p.Asp67Gly
NC_000003.11:g.81754708T>C

Protein change:

D67G

Links:

dbSNP: rs368256869

NCBI 1000 Genomes Browser:

rs368256869

Molecular consequence:

NM_000158.4:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glycogen storage disease, type IV (GSD4)
Synonyms:: GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500

Name:: Glycogen storage disease IV, classic hepatic
Synonyms:: GSD IV, CLASSIC HEPATIC
Identifiers:: MedGen: C1856301

Recent activity

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PREDICTED: Homo sapiens Fc receptor like 2 (FCRL2), transcript variant X13, misc_RNA
gi|2462513534|ref|XR_008486161.1|

Nucleotide
PREDICTED: Homo sapiens Fc receptor like 2 (FCRL2), transcript variant X8, mRNA
PREDICTED: Homo sapiens Fc receptor like 2 (FCRL2), transcript variant X8, mRNA
gi|2217270837|ref|XM_047430270.1|

Nucleotide
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Uncultured Eubacteriales bacterium isolate RUG809, whole genome shotgun sequencing project
gi|1361331657|emb|OMRI00000000.1|OM 00000

Nucleotide
Dipturus cerva voucher BW-A9392 cytochrome oxidase subunit 1 (COI) gene, partial...
Dipturus cerva voucher BW-A9392 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|320560023|gnl|uoguelph|FOAL1095- I-5P|gb|HQ955996.1|

Nucleotide
Etheostoma serrifer SH3 and PX3 domain-containing 3-like protein (SH3PX3) gene, ...
Etheostoma serrifer SH3 and PX3 domain-containing 3-like protein (SH3PX3) gene, partial cds
gi|426314785|gb|KC134741.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002177006	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 31, 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

SCV002177006

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 31, 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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002177006.1

#	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: Sep 29, 2024

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