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NM_003000.2(SDHB):c.352G>A (p.Asp118Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 8, 2019
Accession:
VCV000412490.4
Variation ID:
412490
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.352G>A (p.Asp118Asn)

Allele ID
390926
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17028671 (GRCh38) GRCh38 UCSC
1: 17355166 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17355166C>T
NC_000001.11:g.17028671C>T
NG_012340.1:g.30500G>A
... more HGVS
Protein change
D118N
Other names
-
Canonical SPDI
NC_000001.11:17028670:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA089595
dbSNP: rs200021702
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 Mar 8, 2019 RCV000468150.4
Uncertain significance 1 criteria provided, single submitter Apr 2, 2018 RCV000663129.1
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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
(Mar 08, 2019)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000554037.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with asparagine at codon 118 of the SDHB protein (p.Asp118Asn). The aspartic acid residue is highly conserved and there … (more)
Uncertain significance
(Apr 02, 2018)
criteria provided, single submitter
Method: clinical testing
Paragangliomas 4
Allele origin: unknown
Counsyl
Accession: SCV000786266.2
Submitted: (Jun 20, 2018)
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 rs200021702...

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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 08, 2021