NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs) AND Sjögren-Larsson syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 12, 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:: RCV000667144.1

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)]

NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)

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.1313dup (p.Arg439fs)

HGVS:

NC_000017.11:g.19671826dup
NG_007095.2:g.28076dup
NM_000382.3:c.1313dupMANE SELECT
NM_001031806.2:c.1313dup
NM_001369136.1:c.1313dup
NM_001369137.2:c.1313dup
NM_001369138.2:c.1313dup
NM_001369139.1:c.1313dup
NM_001369146.2:c.1208-3732dup
NM_001369148.2:c.734dup
NP_000373.1:p.Arg439fs
NP_001026976.1:p.Arg439fs
NP_001356065.1:p.Arg439fs
NP_001356066.1:p.Arg439fs
NP_001356067.1:p.Arg439fs
NP_001356068.1:p.Arg439fs
NP_001356077.1:p.Arg246fs
NC_000017.10:g.19575139dup
NM_000382.2:c.1313dupT

Protein change:

R246fs

Molecular consequence:

NM_000382.3:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001031806.2:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369136.1:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369137.2:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369138.2:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369139.1:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369148.2:c.734dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369146.2:c.1208-3732dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791551	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 12, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791551

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(May 12, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000791551.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 23, 2022

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