NM_016952.4(CDON):c.*2377delinsCACACACACACACAC AND Holoprosencephaly sequence

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000259485.1

Allele description [Variation Report for NM_016952.4(CDON):c.*2377delinsCACACACACACACAC]

NM_016952.4(CDON):c.*2377delinsCACACACACACACAC

Gene:
CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q24.2
Genomic location:
Preferred name:
NM_016952.4(CDON):c.*2377delinsCACACACACACACAC
HGVS:
  • NC_000011.10:g.125958565delinsGTGTGTGTGTGTGTG
  • NG_029776.1:g.109728delinsCACACACACACACAC
  • NM_001243597.1:c.*2377delinsCACACACACACACAC
  • NM_016952.4:c.*2377delinsCACACACACACACAC
  • NC_000011.9:g.125828460delinsGTGTGTGTGTGTGTG
  • NM_016952.4:c.*2377delTinsCACACACACACACAC
Links:
dbSNP: rs886047958
NCBI 1000 Genomes Browser:
rs886047958
Molecular consequence:
  • NM_001243597.1:c.*2377delinsCACACACACACACAC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016952.4:c.*2377delinsCACACACACACACAC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Holoprosencephaly sequence (HPE)
Synonyms:
ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
Identifiers:
MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000368641Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000368641.2

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

Last Updated: Nov 2, 2019

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