U.S. flag

An official website of the United States government

NM_004782.4(SNAP29):c.108del (p.Asp36fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 2023
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:
RCV003702716.1

Allele description

NM_004782.4(SNAP29):c.108del (p.Asp36fs)

Gene:
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_004782.4(SNAP29):c.108del (p.Asp36fs)
HGVS:
  • NC_000022.11:g.20859218del
  • NG_012152.1:g.5215del
  • NG_033052.2:g.4595del
  • NG_145009.1:g.390del
  • NG_145009.2:g.829del
  • NM_004782.4:c.108delMANE SELECT
  • NP_004773.1:p.Asp36fs
  • NC_000022.10:g.21213506del
Protein change:
D36fs
Molecular consequence:
  • NM_004782.4:c.108del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004469559Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 29, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H.

Am J Hum Genet. 2005 Aug;77(2):242-51. Epub 2005 Jun 20.

PubMed [citation]
PMID:
15968592
PMCID:
PMC1224527

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E.

Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17.

PubMed [citation]
PMID:
21073448
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004469559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Asp36Glufs*67) in the SNAP29 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SNAP29 are known to be pathogenic (PMID: 15968592, 21073448). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SNAP29-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 28, 2024