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NM_003000.3(SDHB):c.643-8_643-3del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 7, 2020
Accession:
VCV000944109.2
Variation ID:
944109
Description:
6bp deletion
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NM_003000.3(SDHB):c.643-8_643-3del

Allele ID
940607
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022733-17022738 (GRCh38) GRCh38 UCSC
1: 17349228-17349233 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.36433_36438del
LRG_316t1:c.643-8_643-3del
NC_000001.10:g.17349228_17349233del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:17022732:GGAAAA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 7, 2020 RCV001214438.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 07, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001386120.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 6 of the SDHB gene. It does not directly change the encoded amino acid sequence of the SDHB protein, … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Record last updated Oct 08, 2021