NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) AND Sjögren-Larsson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000001710.3

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)]

NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)

Gene:

ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)

HGVS:

NC_000017.11:g.19657862G>C
NG_007095.2:g.14112G>C
NM_000382.3:c.798G>CMANE SELECT
NM_001031806.2:c.798G>C
NM_001369136.1:c.798G>C
NM_001369137.2:c.798G>C
NM_001369138.2:c.798G>C
NM_001369139.1:c.798G>C
NM_001369146.2:c.798G>C
NM_001369148.2:c.219G>C
NP_000373.1:p.Lys266Asn
NP_001026976.1:p.Lys266Asn
NP_001356065.1:p.Lys266Asn
NP_001356066.1:p.Lys266Asn
NP_001356067.1:p.Lys266Asn
NP_001356068.1:p.Lys266Asn
NP_001356075.1:p.Lys266Asn
NP_001356077.1:p.Lys73Asn
NC_000017.10:g.19561175G>C
NM_000382.2:c.798G>C
P51648:p.Lys266Asn

Protein change:

K266N; LYS266ASN

Links:

UniProtKB: P51648#VAR_017519; OMIM: 609523.0008; dbSNP: rs72547569

NCBI 1000 Genomes Browser:

rs72547569

Molecular consequence:

NM_000382.3:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001031806.2:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369136.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369137.2:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369138.2:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369139.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369146.2:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369148.2:c.219G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sjögren-Larsson syndrome (SLS)
Synonyms:: FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; FADH deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010031; MedGen: C0037231; Orphanet: 816; OMIM: 270200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021866	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021866

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1999)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB, Carney G, Lin Z.

Am J Hum Genet. 1999 Dec;65(6):1547-60.

PubMed [citation]

PMID:: 10577908
PMCID:: PMC1288365

Details of each submission

From OMIM, SCV000021866.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with Sjogren-Larsson syndrome (SLS; 270200), Rizzo et al. (1999) found that a lys266-to-asn (K266N) mutation in the ALDH10 gene appeared to have a greater destructive effect on mRNA stability than on enzyme catalytic activity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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