NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) AND ALDH18A1-related de Barsy syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 20, 2012
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:: RCV000196978.1

Allele description

NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)

Gene:

ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

Preferred name:

NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)

HGVS:

NC_000010.11:g.95606856C>T
NG_012258.1:g.54955G>A
NM_001017423.2:c.2288G>A
NM_001323412.2:c.1961G>A
NM_001323413.2:c.2294G>A
NM_001323414.2:c.2294G>A
NM_001323415.2:c.2288G>A
NM_001323416.2:c.1961G>A
NM_001323417.2:c.2189G>A
NM_001323418.2:c.1955G>A
NM_001323419.2:c.1658G>A
NM_002860.4:c.2294G>AMANE SELECT
NP_001017423.1:p.Arg763Gln
NP_001310341.1:p.Arg654Gln
NP_001310342.1:p.Arg765Gln
NP_001310343.1:p.Arg765Gln
NP_001310344.1:p.Arg763Gln
NP_001310345.1:p.Arg654Gln
NP_001310346.1:p.Arg730Gln
NP_001310347.1:p.Arg652Gln
NP_001310348.1:p.Arg553Gln
NP_002851.2:p.Arg765Gln
NC_000010.10:g.97366613C>T
NM_002860.3:c.2294G>A

Protein change:

R553Q

Links:

dbSNP: rs537043237

NCBI 1000 Genomes Browser:

rs537043237

Molecular consequence:

NM_001017423.2:c.2288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323412.2:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323413.2:c.2294G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323414.2:c.2294G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323415.2:c.2288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323416.2:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323417.2:c.2189G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323418.2:c.1955G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323419.2:c.1658G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002860.4:c.2294G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ALDH18A1-related de Barsy syndrome
Synonyms:: DE BARSY SYNDROME A; Cutis laxa, autosomal recessive IIIA
Identifiers:: MONDO: MONDO:0009053; MedGen: C5234852; Orphanet: 2962; Orphanet: 35664; OMIM: 219150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255322	UCLA Clinical Genomics Center, UCLA - CES	criteria provided, single submitter (Lee et al. (JAMA. 2014))	Likely pathogenic (Nov 20, 2012)	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

SCV000255322

UCLA Clinical Genomics Center, UCLA - CES

criteria provided, single submitter

(Lee et al. (JAMA. 2014))

Likely pathogenic
(Nov 20, 2012)

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
Lebanese	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]

PMID:: 25326637
PMCID:: PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255322.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Lebanese	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 27, 2022

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