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SBDS, 1-BP INS, 96A

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Mar 1, 2004
Accession:
VCV000003198.1
Variation ID:
3198
Description:
insertion
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SBDS, 1-BP INS, 96A

Allele ID
18237
Variant type
Insertion
Variant length
-
Cytogenetic location
7q11
Genomic location
-
HGVS
-
Protein change
-
Other names
1-BP INS, 96A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 607444.0004
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 1, 2004 RCV000003350.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SBDS - - GRCh38
GRCh37
35 53

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2004)
no assertion criteria provided
Method: literature only
SHWACHMAN-DIAMOND SYNDROME
Allele origin: germline
OMIM
Accession: SCV000023508.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Nakashima E Human genetics 2004 PMID: 14749921

Record last updated Jun 17, 2019