NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 31, 2013
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:: RCV000146250.7

Allele description [Variation Report for NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)]

NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)

Genes:

L2HGDH:L-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
DMAC2L:distal membrane arm assembly component 2 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.3

Genomic location:

Preferred name:

NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)

HGVS:

NC_000014.9:g.50312098A>C
NG_008092.1:g.5132T>G
NM_024884.3:c.53T>GMANE SELECT
NP_079160.1:p.Leu18Arg
NC_000014.8:g.50778816A>C
NM_024884.2:c.53T>G
Q9H9P8:p.Leu18Arg

Protein change:

L18R

Links:

UniProtKB: Q9H9P8#VAR_025681; dbSNP: rs2275591

NCBI 1000 Genomes Browser:

rs2275591

Molecular consequence:

NM_024884.3:c.53T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000193497	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely benign (Oct 31, 2013)	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

SCV000193497

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely benign
(Oct 31, 2013)

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

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee.

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000193497.1

#	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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