NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) AND Sjögren-Larsson syndrome

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000663418.2

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)]

NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)

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.733G>A (p.Asp245Asn)
HGVS:
  • NC_000017.11:g.19657797G>A
  • NG_007095.2:g.14047G>A
  • NM_000382.3:c.733G>AMANE SELECT
  • NM_001031806.2:c.733G>A
  • NM_001369136.1:c.733G>A
  • NM_001369137.1:c.733G>A
  • NM_001369138.1:c.733G>A
  • NM_001369139.1:c.733G>A
  • NM_001369146.1:c.733G>A
  • NM_001369148.1:c.154G>A
  • NP_000373.1:p.Asp245Asn
  • NP_001026976.1:p.Asp245Asn
  • NP_001356065.1:p.Asp245Asn
  • NP_001356066.1:p.Asp245Asn
  • NP_001356067.1:p.Asp245Asn
  • NP_001356068.1:p.Asp245Asn
  • NP_001356075.1:p.Asp245Asn
  • NP_001356077.1:p.Asp52Asn
  • NC_000017.10:g.19561110G>A
  • NM_000382.2:c.733G>A
  • P51648:p.Asp245Asn
Protein change:
D245N
Links:
UniProtKB: P51648#VAR_002252; dbSNP: rs72547568
NCBI 1000 Genomes Browser:
rs72547568
Molecular consequence:
  • NM_000382.3:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001031806.2:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369136.1:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369137.1:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369138.1:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369139.1:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369146.1:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369148.1:c.154G>A - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000786717Broad Institute Rare Disease Group, Broad Institute - Broad Institute Center for Mendelian Genomics (CMG)criteria provided, single submitter
Pathogenicgermlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV000789733Counsylno assertion criteria providedLikely pathogenic
(Apr 9, 2019)
unknownclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Unspecifiedgermlineyes21not providednot providedyesresearch

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

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ.

Brain. 2001 Jul;124(Pt 7):1426-37. Review.

PubMed [citation]
PMID:
11408337
See all PubMed Citations (10)

Details of each submission

From Broad Institute Rare Disease Group, Broad Institute - Broad Institute Center for Mendelian Genomics (CMG), SCV000786717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Unspecified2not providedyesresearch PubMed (1)

Description

The homozygous p.Asp245Asn variant was identified by our study in two individuals with Sjogren-Larsson Syndrome. The p.Asp245Asn variant is believed to be pathogenic based on numberous reports in the literature and databases.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided

From Counsyl, SCV000789733.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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