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NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter) AND Sjögren-Larsson syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 5, 2017
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:
RCV000668072.1

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)]

NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)

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.1277T>G (p.Leu426Ter)
HGVS:
  • NC_000017.11:g.19671790T>G
  • NG_007095.2:g.28040T>G
  • NM_000382.3:c.1277T>GMANE SELECT
  • NM_001031806.2:c.1277T>G
  • NM_001369136.1:c.1277T>G
  • NM_001369137.2:c.1277T>G
  • NM_001369138.2:c.1277T>G
  • NM_001369139.1:c.1277T>G
  • NM_001369146.2:c.1208-3768T>G
  • NM_001369148.2:c.698T>G
  • NP_000373.1:p.Leu426Ter
  • NP_001026976.1:p.Leu426Ter
  • NP_001356065.1:p.Leu426Ter
  • NP_001356066.1:p.Leu426Ter
  • NP_001356067.1:p.Leu426Ter
  • NP_001356068.1:p.Leu426Ter
  • NP_001356077.1:p.Leu233Ter
  • NC_000017.10:g.19575103T>G
  • NM_000382.2:c.1277T>G
Protein change:
L233*
Molecular consequence:
  • NM_001369146.2:c.1208-3768T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000382.3:c.1277T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001031806.2:c.1277T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369136.1:c.1277T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369137.2:c.1277T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369138.2:c.1277T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369139.1:c.1277T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369148.2:c.698T>G - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792616Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jul 5, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Kraus C, Braun-Quentin C, Ballhausen WG, Pfeiffer RA.

Eur J Hum Genet. 2000 Apr;8(4):299-306.

PubMed [citation]
PMID:
10854114

Details of each submission

From Counsyl, SCV000792616.1

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

Last Updated: Apr 23, 2022