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NM_003000.2(SDHB):c.541-18_541-8dup

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Mar 20, 2017
Accession:
VCV000459155.1
Variation ID:
459155
Description:
11bp duplication
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NM_003000.2(SDHB):c.541-18_541-8dup

Allele ID
447457
Variant type
Duplication
Variant length
11 bp
Cytogenetic location
1p36.13
Genomic location
1: 17024082-17024092 (GRCh38) GRCh38 UCSC
1: 17350577-17350587 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17350578_17350588dup
NC_000001.11:g.17024083_17024093dup
NM_003000.2:c.541-18_541-8dupTCTTTTCTCCC
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658656887
dbSNP: rs1553177448
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 20, 2017 RCV000546563.1
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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
479 506

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 20, 2017)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stroma tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000630715.1
Submitted: (Oct 05, 2017)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019