NM_001205019.2(GK):c.683A>C (p.Glu228Ala) AND Inborn glycerol kinase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 5, 2023
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:: RCV003486090.2

Allele description [Variation Report for NM_001205019.2(GK):c.683A>C (p.Glu228Ala)]

NM_001205019.2(GK):c.683A>C (p.Glu228Ala)

Gene:

GK:glycerol kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_001205019.2(GK):c.683A>C (p.Glu228Ala)

HGVS:

NC_000023.11:g.30696637A>C
NG_008178.1:g.48279A>C
NM_000167.6:c.683A>C
NM_001128127.3:c.683A>C
NM_001205019.2:c.683A>CMANE SELECT
NM_001399987.1:c.767A>C
NM_203391.4:c.683A>C
NP_000158.1:p.Glu228Ala
NP_001121599.1:p.Glu228Ala
NP_001191948.1:p.Glu228Ala
NP_001386916.1:p.Glu256Ala
NP_976325.1:p.Glu228Ala
LRG_848t1:c.683A>C
LRG_848t2:c.683A>C
LRG_848:g.48279A>C
LRG_848p1:p.Glu228Ala
LRG_848p2:p.Glu228Ala
NC_000023.10:g.30714754A>C
NM_000167.5:c.683A>C
NR_174369.1:n.963A>C
NR_174370.1:n.691A>C
NR_174371.1:n.617A>C
NR_174372.1:n.617A>C
NR_174373.1:n.691A>C
NR_174374.1:n.617A>C
NR_174375.1:n.617A>C

Protein change:

E228A

Molecular consequence:

NM_000167.6:c.683A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128127.3:c.683A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001205019.2:c.683A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001399987.1:c.767A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_203391.4:c.683A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_174369.1:n.963A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174370.1:n.691A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174371.1:n.617A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174372.1:n.617A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174373.1:n.691A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174374.1:n.617A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174375.1:n.617A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn glycerol kinase deficiency
Synonyms:: GK deficiency; GK1 deficiency; Deficiency of glycerol kinase; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010613; MedGen: C0268418; Orphanet: 408; OMIM: 307030; Human Phenotype Ontology: HP:0040302

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004235149	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 5, 2023)	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

SCV004235149

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 5, 2023)

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, SCV004235149.1

#	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: Mar 16, 2024

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