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NC_000007.14:g.66971410_66990307del AND Shwachman-Diamond syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 29, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003221316.1

Allele description [Variation Report for NC_000007.14:g.66971410_66990307del]

NC_000007.14:g.66971410_66990307del

Gene:
SBDS:SBDS ribosome maturation factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NC_000007.14:g.66971410_66990307del
HGVS:
NC_000007.14:g.66971410_66990307del

Condition(s)

Name:
Shwachman-Diamond syndrome 1 (SDS1)
Identifiers:
MONDO: MONDO:0044204; MedGen: C4692625; OMIM: 260400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003845956Clinical Genetics Branch, National Institutes of Health
no assertion criteria provided
Pathogenic
(Mar 29, 2023) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PMC

Shwachman Diamond Syndrome: Narrow Genotypic Spectrum and Variable Clinical Features.

Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ.

Pediatric research. 2022 Mar 23; 92(6): 1671-1680

PMC [article]
PMCID:
PMC9500118
PMID:
35322185
DOI:
10.1038/s41390-022-02009-8

Details of each submission

From Clinical Genetics Branch, National Institutes of Health, SCV003845956.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided

Description

Identified in a patient with classic SDS with phenotypes. Patient also had a c.258+2T>C variant in trans. Presumed loss of function. This very large deletion removes part of intron 4, exon 5 and the 3'UTR of SBDS, and thus is predicted to undergo nonsense mediated decay, and haploinsufficiency from this allele. Additionally, western blotting for SBDS showed significant decrease in protein production from cultured fibroblasts from this patient.

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

Last Updated: Sep 1, 2024