NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer) AND Sjögren-Larsson syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667443.1

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)]

NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)

Gene:
ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
HGVS:
  • NC_000017.11:g.19671880del
  • NG_007095.2:g.28130del
  • NM_000382.3:c.1367delMANE SELECT
  • NM_001031806.2:c.1367del
  • NM_001369136.1:c.1367del
  • NM_001369137.1:c.1367del
  • NM_001369138.1:c.1367del
  • NM_001369139.1:c.1367del
  • NM_001369146.1:c.1208-3678del
  • NM_001369148.1:c.788del
  • NP_000373.1:p.Leu455_Leu456insTer
  • NP_001026976.1:p.Leu455_Leu456insTer
  • NP_001356065.1:p.Leu455_Leu456insTer
  • NP_001356066.1:p.Leu455_Leu456insTer
  • NP_001356067.1:p.Leu455_Leu456insTer
  • NP_001356068.1:p.Leu455_Leu456insTer
  • NP_001356077.1:p.Leu262_Leu263insTer
  • NC_000017.10:g.19575193del
  • NM_000382.2:c.1367delT
Molecular consequence:
  • NM_001369146.1:c.1208-3678del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000382.3:c.1367del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001031806.2:c.1367del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369136.1:c.1367del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369137.1:c.1367del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369138.1:c.1367del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369139.1:c.1367del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369148.1:c.788del - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000791887Counsylcriteria provided, single submitter
Likely pathogenic
(May 30, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 20, 2020

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