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NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs) AND Sjögren-Larsson syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002510636.2

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)]

NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)

Gene:
ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)
HGVS:
  • NC_000017.11:g.19671875dup
  • NG_007095.2:g.28125dup
  • NM_000382.3:c.1362dupMANE SELECT
  • NM_001031806.2:c.1362dup
  • NM_001369136.1:c.1362dup
  • NM_001369137.2:c.1362dup
  • NM_001369138.2:c.1362dup
  • NM_001369139.1:c.1362dup
  • NM_001369146.2:c.1208-3683dup
  • NM_001369148.2:c.783dup
  • NP_000373.1:p.Leu455fs
  • NP_001026976.1:p.Leu455fs
  • NP_001356065.1:p.Leu455fs
  • NP_001356066.1:p.Leu455fs
  • NP_001356067.1:p.Leu455fs
  • NP_001356068.1:p.Leu455fs
  • NP_001356077.1:p.Leu262fs
  • NC_000017.10:g.19575188dup
Protein change:
L262fs
Molecular consequence:
  • NM_000382.3:c.1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001031806.2:c.1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369136.1:c.1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369137.2:c.1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369138.2:c.1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369139.1:c.1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369148.2:c.783dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369146.2:c.1208-3683dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002820130Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

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

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

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV002820130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant causes a frameshift starting with codon Leucine 455, changes this amino acid to Serine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Leu455SerfsTer52. The variant has not been reported previously in affected individuals. The p.Leu455SerfsTer52 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. Hence the above is classified as Likely Pathogenic.

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

Last Updated: Apr 6, 2024