NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) 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:: RCV001289529.2

Allele description [Variation Report for NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs)]

NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs)

HGVS:

NC_000017.11:g.8086149_8086174del
NG_007099.1:g.6531_6556del
NG_007099.2:g.6544_6569del
NM_001139.3:c.195_220delMANE SELECT
NP_001130.1:p.Ile66fs
LRG_1264t1:c.195_220del
LRG_1264:g.6544_6569del
LRG_1264p1:p.Ile66fs
NC_000017.10:g.7989467_7989492del
NM_001139.2:c.195_220del26

Protein change:

I66fs

Links:

dbSNP: rs1978297341

NCBI 1000 Genomes Browser:

rs1978297341

Molecular consequence:

NM_001139.3:c.195_220del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001477403	Institute for Human Genetics, University Medical Center Freiburg	no assertion criteria provided	Pathogenic (Jan 7, 2021)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001477403

Institute for Human Genetics, University Medical Center Freiburg

no assertion criteria provided

Pathogenic
(Jan 7, 2021)

unknown

clinical testing

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

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV001477403.1

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

Last Updated: Dec 24, 2022

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