NM_001205019.2(GK):c.749A>G (p.Lys250Arg) AND Inborn glycerol kinase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 15, 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:: RCV003148546.1

Allele description [Variation Report for NM_001205019.2(GK):c.749A>G (p.Lys250Arg)]

NM_001205019.2(GK):c.749A>G (p.Lys250Arg)

Genes:

GK-AS1:GK antisense RNA 1 [Gene - HGNC]
GK:glycerol kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_001205019.2(GK):c.749A>G (p.Lys250Arg)

HGVS:

NC_000023.11:g.30700415A>G
NG_008178.1:g.52057A>G
NM_000167.6:c.731A>G
NM_001128127.3:c.731A>G
NM_001205019.2:c.749A>GMANE SELECT
NM_001399987.1:c.815A>G
NM_203391.4:c.749A>G
NP_000158.1:p.Lys244Arg
NP_001121599.1:p.Lys244Arg
NP_001191948.1:p.Lys250Arg
NP_001386916.1:p.Lys272Arg
NP_976325.1:p.Lys250Arg
LRG_848t1:c.749A>G
LRG_848t2:c.731A>G
LRG_848:g.52057A>G
LRG_848p1:p.Lys250Arg
LRG_848p2:p.Lys244Arg
NC_000023.10:g.30718532A>G
NM_000167.5:c.731A>G
NR_046603.1:n.17685T>C
NR_174369.1:n.1029A>G
NR_174370.1:n.757A>G
NR_174371.1:n.683A>G
NR_174372.1:n.665A>G
NR_174373.1:n.739A>G
NR_174374.1:n.683A>G
NR_174375.1:n.665A>G

Protein change:

K244R

Molecular consequence:

NM_000167.6:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128127.3:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001205019.2:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001399987.1:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_203391.4:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_046603.1:n.17685T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174369.1:n.1029A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174370.1:n.757A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174371.1:n.683A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174372.1:n.665A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174373.1:n.739A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174374.1:n.683A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174375.1:n.665A>G - 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
SCV003835614	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 15, 2022)	unknown	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

SCV003835614

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 15, 2022)

unknown

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	unknown	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 Baylor Genetics, SCV003835614.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2023

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