NM_000286.3(PEX12):c.268_271del (p.Lys90fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 7, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000595990.3

Allele description [Variation Report for NM_000286.3(PEX12):c.268_271del (p.Lys90fs)]

NM_000286.3(PEX12):c.268_271del (p.Lys90fs)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
HGVS:
  • NC_000017.11:g.35577448_35577451del
  • NG_008447.1:g.6188_6191del
  • NM_000286.3:c.268_271delMANE SELECT
  • NP_000277.1:p.Lys90fs
  • NC_000017.10:g.33904466_33904469del
  • NC_000017.10:g.33904467_33904470del
  • NM_000286.2:c.268_271del
  • NM_000286.2:c.268_271delAAGA
Protein change:
K90fs
Links:
dbSNP: rs61752100
NCBI 1000 Genomes Browser:
rs61752100
Molecular consequence:
  • NM_000286.3:c.268_271del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000708096EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Apr 21, 2017)
germlineclinical testing

Citation Link,

SCV001824666GeneDxcriteria provided, single submitter
Pathogenic
(Aug 7, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000708096.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001824666.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31589614, 15542397, 9792857, 21031596, 28492532, 10527683)

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

Last Updated: Sep 24, 2021

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