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NM_003000.3(SDHB):c.73-5T>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 27, 2019
Accession:
VCV000946246.1
Variation ID:
946246
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.73-5T>G

Allele ID
940608
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17044893 (GRCh38) GRCh38 UCSC
1: 17371388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.14278T>G
LRG_316t1:c.73-5T>G
NC_000001.10:g.17371388A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:17044892:A:C
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 Jun 27, 2019 RCV001217069.1
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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
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 27, 2019)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001388896.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change falls in intron 1 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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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 08, 2021