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NM_003000.3(SDHB):c.424-37TTC[6]

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000258890.6
Variation ID:
258890
Description:
6bp microsatellite
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NM_003000.3(SDHB):c.424-37TTC[6]

Allele ID
249531
Variant type
Microsatellite
Variant length
6 bp
Cytogenetic location
1p36.13
Genomic location
1: 17027879-17027884 (GRCh38) GRCh38 UCSC
1: 17354374-17354379 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17354374_17354376GAA[6]
NC_000001.11:g.17027879_17027881GAA[6]
NG_012340.1:g.31269_31271TTC[6]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:17027878:GAAGAAGAAGAAGAAGAAGAAGAA:GAAGAAGAAGAAGAAGAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA637817
dbSNP: rs34261028
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter - RCV000243274.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000307606.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000402739.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001517903.1
Benign 2 criteria provided, single submitter Mar 3, 2015 RCV001580091.4
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000309332.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000351423.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Paraganglioma and Gastric Stromal Sarcoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000351424.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001726501.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001832144.1
Submitted: (Sep 03, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001809642.1
Submitted: (Aug 24, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001926430.1
Submitted: (Sep 23, 2021)
Evidence details

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

Text-mined citations for rs34261028...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021