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NM_001139.3(ALOX12B):c.166C>T (p.Gln56Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 23, 2017
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:
RCV000522841.1

Allele description [Variation Report for NM_001139.3(ALOX12B):c.166C>T (p.Gln56Ter)]

NM_001139.3(ALOX12B):c.166C>T (p.Gln56Ter)

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.166C>T (p.Gln56Ter)
HGVS:
  • NC_000017.11:g.8086202G>A
  • NG_007099.1:g.6502C>T
  • NG_007099.2:g.6515C>T
  • NM_001139.3:c.166C>TMANE SELECT
  • NP_001130.1:p.Gln56Ter
  • LRG_1264t1:c.166C>T
  • LRG_1264:g.6515C>T
  • LRG_1264p1:p.Gln56Ter
  • NC_000017.10:g.7989520G>A
  • NM_001139.2:c.166C>T
Protein change:
Q56*
Links:
dbSNP: rs764105296
NCBI 1000 Genomes Browser:
rs764105296
Molecular consequence:
  • NM_001139.3:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620214GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 23, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000620214.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q56X variant in the ALOX12B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q56X variant is observed with very low frequency in 5/65,134 alleles (0.0076%) from individuals of non-Finnish European background in the ExAC dataset, indicating it is not a common, benign variant (Lek et al., 2016). We interpret Q56X as a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022