NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) AND Autosomal recessive congenital ichthyosis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 7, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001289969.2

Allele description [Variation Report for NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del)]

NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del)

Genes:

LOC130060196:ATAC-STARR-seq lymphoblastoid active region 11660 [Gene]
ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del)

HGVS:

NC_000017.11:g.8079905AAG[1]
NG_007099.2:g.12807CTT[1]
NM_001139.3:c.786CTT[1]MANE SELECT
NP_001130.1:p.Phe264del
LRG_1264t1:c.786CTT[1]
LRG_1264:g.12807CTT[1]
LRG_1264p1:p.Phe264del
NC_000017.10:g.7983223AAG[1]
NG_007099.1:g.12794CTT[1]
NM_001139.2:c.789_791del

Protein change:

F264del

Links:

dbSNP: rs1302782570

NCBI 1000 Genomes Browser:

rs1302782570

Molecular consequence:

NM_001139.3:c.786CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Autosomal recessive congenital ichthyosis 2 (ARCI2)
Identifiers:: MONDO: MONDO:0009439; MedGen: C3888093; Orphanet: 281122; Orphanet: 79394; OMIM: 242100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001477982	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001477982

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]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV001477982.1

#	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

Last Updated: Oct 14, 2023

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