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NM_003000.2(SDHB):c.34C>T (p.Arg12Trp)

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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 31, 2020
Accession:
VCV000486427.6
Variation ID:
486427
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.34C>T (p.Arg12Trp)

Allele ID
472277
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17053986 (GRCh38) GRCh38 UCSC
1: 17380481 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.34C>T LRG_316p1:p.Arg12Trp
LRG_316:g.5185C>T
NC_000001.10:g.17380481G>A
... more HGVS
Protein change
R12W
Other names
-
Canonical SPDI
NC_000001.11:17053985:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338230823
dbSNP: rs761996626
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 31, 2020 RCV000566006.2
Uncertain significance 1 criteria provided, single submitter Nov 27, 2019 RCV000822512.2
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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 31, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000675093.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R12W variant (also known as c.34C>T), located in coding exon 1 of the SDHB gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Nov 27, 2019)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000963319.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with tryptophan at codon 12 of the SDHB protein (p.Arg12Trp). The arginine residue is weakly conserved and there is a … (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.

Text-mined citations for rs761996626...

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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