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NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) 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:
RCV001289922.2

Allele description [Variation Report for NM_001139.3(ALOX12B):c.209A>C (p.His70Pro)]

NM_001139.3(ALOX12B):c.209A>C (p.His70Pro)

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.209A>C (p.His70Pro)
HGVS:
  • NC_000017.11:g.8086159T>G
  • NG_007099.1:g.6545A>C
  • NG_007099.2:g.6558A>C
  • NM_001139.3:c.209A>CMANE SELECT
  • NP_001130.1:p.His70Pro
  • LRG_1264t1:c.209A>C
  • LRG_1264:g.6558A>C
  • LRG_1264p1:p.His70Pro
  • NC_000017.10:g.7989477T>G
  • NM_001139.2:c.209A>C
Protein change:
H70P
Links:
dbSNP: rs1978297441
NCBI 1000 Genomes Browser:
rs1978297441
Molecular consequence:
  • NM_001139.3:c.209A>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001477924Institute for Human Genetics, University Medical Center Freiburg
no assertion criteria provided
Pathogenic
(Jan 7, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.

Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, et al.

Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26.

PubMed [citation]
PMID:
31168818

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV001477924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022