NM_000168.6(GLI3):c.827-19dup AND Greig cephalopolysyndactyly syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000387783.5

Allele description [Variation Report for NM_000168.6(GLI3):c.827-19dup]

NM_000168.6(GLI3):c.827-19dup

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.6(GLI3):c.827-19dup
HGVS:
  • NC_000007.14:g.42040258dup
  • NG_008434.1:g.201767dup
  • NM_000168.6:c.827-19dupMANE SELECT
  • NC_000007.13:g.42079851_42079852insA
  • NC_000007.13:g.42079857dup
  • NM_000168.5:c.827-14dupT
Links:
dbSNP: rs200073401
NCBI 1000 Genomes Browser:
rs200073401
Molecular consequence:
  • NM_000168.6:c.827-19dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Greig cephalopolysyndactyly syndrome (GCPS)
Synonyms:
Greig syndrome; Polysyndactyly with peculiar skull shape
Identifiers:
MONDO: MONDO:0008287; MedGen: C0265306; Orphanet: 380; OMIM: 175700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000469265Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000469265.2

#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: Mar 5, 2024