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NM_003000.2(SDHB):c.248T>C (p.Val83Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 10, 2016)
Last evaluated:
Jan 7, 2016
Accession:
VCV000239426.1
Variation ID:
239426
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.248T>C (p.Val83Ala)

Allele ID
238184
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17033098 (GRCh38) GRCh38 UCSC
1: 17359593 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.248T>C LRG_316p1:p.Val83Ala
LRG_316:g.26073T>C
NC_000001.10:g.17359593A>G
... more HGVS
Protein change
V83A
Other names
-
Canonical SPDI
NC_000001.11:17033097:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581749
dbSNP: rs763547482
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 Jan 7, 2016 RCV000226167.1
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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
(Jan 07, 2016)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000287766.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change replaces valine with alanine at codon 83 of the SDHB protein (p.Val83Ala). The valine 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 rs763547482...

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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