NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) 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:: RCV001289942.2

Allele description [Variation Report for NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu)]

NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu)

Gene:

ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu)

HGVS:

NC_000017.11:g.8077187G>C
NG_007099.1:g.15517C>G
NG_007099.2:g.15530C>G
NM_001139.3:c.1078C>GMANE SELECT
NP_001130.1:p.Gln360Glu
LRG_1264t1:c.1078C>G
LRG_1264:g.15530C>G
LRG_1264p1:p.Gln360Glu
NC_000017.10:g.7980505G>C
NM_001139.2:c.1078C>G

Protein change:

Q360E

Links:

dbSNP: rs1977105578

NCBI 1000 Genomes Browser:

rs1977105578

Molecular consequence:

NM_001139.3:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001477946	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

SCV001477946

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

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J.

J Invest Dermatol. 2007 Apr;127(4):829-34. Epub 2006 Nov 30.

PubMed [citation]

PMID:: 17139268

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV001477946.1

#	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: Dec 24, 2022

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