NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer) AND Autosomal recessive congenital ichthyosis 3

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 7, 2024
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:: RCV001289486.3

Allele description [Variation Report for NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer)]

NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer)

Genes:

LOC126862485:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 [Gene]
ALOXE3:arachidonate epidermal lipoxygenase 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer)

HGVS:

NC_000017.11:g.8117953_8117956del
NG_015807.1:g.5964_5967del
NM_001165960.1:c.434_437del
NM_001369446.1:c.38_41del
NM_021628.3:c.38_41delMANE SELECT
NP_001159432.1:p.Pro144_Tyr145insTer
NP_001356375.1:p.Pro12_Tyr13insTer
NP_067641.2:p.Pro12_Tyr13insTer
NC_000017.10:g.8021271_8021274del
NM_021628.2:c.38_41del

Links:

dbSNP: rs769980324

NCBI 1000 Genomes Browser:

rs769980324

Molecular consequence:

NM_001165960.1:c.434_437del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369446.1:c.38_41del - nonsense - [Sequence Ontology: SO:0001587]
NM_021628.3:c.38_41del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001477356	Institute for Human Genetics, University Medical Center Freiburg	no assertion criteria provided	Pathogenic (Jan 7, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005652854	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 7, 2024)	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

SCV001477356

Institute for Human Genetics, University Medical Center Freiburg

no assertion criteria provided

Pathogenic
(Jan 7, 2021)

unknown

clinical testing

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

SCV005652854

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 7, 2024)

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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Autosomal recessive congenital ichthyoses in the Czech Republic.

Bučková H, Nosková H, Borská R, Réblová K, Pinková B, Zapletalová E, Kopečková L, Horký O, Němečková J, Gaillyová R, Nagy Z, Veselý K, Hermanová M, Stehlíková K, Fajkusová L.

Br J Dermatol. 2016 Feb;174(2):405-7. doi: 10.1111/bjd.13918. Epub 2015 Nov 14. No abstract available.

PubMed [citation]

PMID:: 25998749

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 Institute for Human Genetics, University Medical Center Freiburg, SCV001477356.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV005652854.1

#	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: Feb 1, 2025

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