NM_000920.3(PC):c.1513+13delA AND not specified

Clinical significance:Benign (Last evaluated: Sep 13, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000186099.1

Allele description [Variation Report for NM_000920.3(PC):c.1513+13delA]

NM_000920.3(PC):c.1513+13delA

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000920.3(PC):c.1513+13delA
HGVS:
  • NC_000011.10:g.66853226delT
  • NM_000920.3:c.1513+13delA
  • NC_000011.9:g.66620697delT
Links:
dbSNP: rs755170894
NCBI 1000 Genomes Browser:
rs755170894
Molecular consequence:
  • NM_001040716.1:c.1513+13del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000239124GeneDxcriteria provided, single submitter
Benign
(Sep 13, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000239124.2

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

Description

The variant is found in MITO24-MITOP,MITONUC-MITOP panel(s).

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

Last Updated: Mar 30, 2019

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