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NM_003000.3(SDHB):c.642+325C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 27, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000695745.3
Variation ID:
695745
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.642+325C>T

Allele ID
685086
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17023648 (GRCh38) GRCh38 UCSC
1: 17350143 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17350143G>A
NC_000001.11:g.17023648G>A
NG_012340.1:g.35523C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:17023647:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.40196 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.51236
Trans-Omics for Precision Medicine (TOPMed) 0.51878
1000 Genomes Project 0.59804
Links
dbSNP: rs2235930
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, multiple submitters, no conflicts Jan 10, 2019 RCV000861647.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001519058.1
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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
Benign
(Mar 30, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001002022.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001727861.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 10, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001939025.1
Submitted: (Sep 27, 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 rs2235930...

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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 Oct 02, 2021