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NM_004782.4(SNAP29):c.*477AC[21] AND CEDNIK syndrome

Germline classification:
Uncertain significance (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:
RCV000345437.5

Allele description [Variation Report for NM_004782.4(SNAP29):c.*477AC[21]]

NM_004782.4(SNAP29):c.*477AC[21]

Gene:
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_004782.4(SNAP29):c.*477AC[21]
HGVS:
  • NC_000022.11:g.20888313AC[21]
  • NG_012152.1:g.34310AC[21]
  • NM_004782.4:c.*477AC[21]MANE SELECT
  • NC_000022.10:g.21242601AC[21]
  • NM_004782.3:c.*519_*520delAC
Links:
dbSNP: rs575240461
NCBI 1000 Genomes Browser:
rs575240461
Molecular consequence:
  • NM_004782.4:c.*477AC[21] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
CEDNIK syndrome
Synonyms:
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Identifiers:
MONDO: MONDO:0012290; MedGen: C1836033; Orphanet: 66631; OMIM: 609528

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000437428Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(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, SCV000437428.2

#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: Jul 29, 2023