NM_021628.3(ALOXE3):c.1432del (p.Ser478fs) AND Autosomal recessive congenital ichthyosis 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 26, 2020
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:: RCV001783428.4

Allele description [Variation Report for NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)]

NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)

Gene:

ALOXE3:arachidonate lipoxygenase 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)

HGVS:

NC_000017.11:g.8109304del
NG_015807.1:g.14613del
NM_001165960.1:c.1828del
NM_001369446.1:c.1429del
NM_021628.3:c.1432delMANE SELECT
NP_001159432.1:p.Ser610fs
NP_001356375.1:p.Ser477fs
NP_067641.2:p.Ser478fs
NC_000017.10:g.8012622del
NM_021628.2:c.1432del

Protein change:

S477fs

Links:

dbSNP: rs2151838171

NCBI 1000 Genomes Browser:

rs2151838171

Molecular consequence:

NM_001165960.1:c.1828del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369446.1:c.1429del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021628.3:c.1432del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive congenital ichthyosis 3 (ARCI3)
Synonyms:: ICHTHYOSIS, LAMELLAR, 5
Identifiers:: MONDO: MONDO:0011680; MedGen: C3539888; OMIM: 606545

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002025015	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 26, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002025015

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 26, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Revvity Omics, Revvity, SCV002025015.3

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

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

Last Updated: Mar 16, 2024

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