U.S. flag

An official website of the United States government

NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs) AND Autosomal recessive congenital ichthyosis 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 8, 2018
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:
RCV000782411.1

Allele description [Variation Report for NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)]

NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)

Gene:
ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)
HGVS:
  • NC_000017.11:g.8086082_8086083dup
  • NG_007099.1:g.6622_6623dup
  • NG_007099.2:g.6635_6636dup
  • NM_001139.3:c.286_287dupMANE SELECT
  • NP_001130.1:p.Tyr97fs
  • LRG_1264t1:c.286_287dup
  • LRG_1264:g.6635_6636dup
  • LRG_1264p1:p.Tyr97fs
  • NC_000017.10:g.7989400_7989401dup
Protein change:
Y97fs
Links:
dbSNP: rs1567985261
NCBI 1000 Genomes Browser:
rs1567985261
Molecular consequence:
  • NM_001139.3:c.286_287dup - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000920932Uitto Lab, Thomas Jefferson University - Rare heritable connective tissue and skin disorders in Iranian cohort
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 8, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Uitto Lab, Thomas Jefferson University - Rare heritable connective tissue and skin disorders in Iranian cohort, SCV000920932.1

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

Last Updated: Apr 23, 2022