NM_004782.4(SNAP29):c.520+14T>C AND CEDNIK syndrome

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001145129.1

Allele description [Variation Report for NM_004782.4(SNAP29):c.520+14T>C]

NM_004782.4(SNAP29):c.520+14T>C

Gene:
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_004782.4(SNAP29):c.520+14T>C
HGVS:
  • NC_000022.11:g.20881148T>C
  • NG_012152.1:g.27145T>C
  • NM_004782.4:c.520+14T>CMANE SELECT
  • NC_000022.10:g.21235436T>C
  • NM_004782.3:c.520+14T>C
Links:
Molecular consequence:
  • NM_004782.4:c.520+14T>C - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001305771Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, et al.

Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

PubMed [citation]
PMID:
25473036
PMCID:
PMC4286868

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001305771.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 7, 2021

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