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NM_003000.2(SDHB):c.238A>G (p.Lys80Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 9, 2019
Accession:
VCV000428920.5
Variation ID:
428920
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.238A>G (p.Lys80Glu)

Allele ID
420748
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17033108 (GRCh38) GRCh38 UCSC
1: 17359603 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.238A>G LRG_316p1:p.Lys80Glu
LRG_316:g.26063A>G
NC_000001.10:g.17359603T>C
... more HGVS
Protein change
K80E
Other names
-
Canonical SPDI
NC_000001.11:17033107:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338276567
dbSNP: rs1131691051
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000492648.1
Uncertain significance 1 criteria provided, single submitter Apr 9, 2019 RCV001221061.2
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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
Likely pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581196.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.K80E variant (also known as c.238A>G) is located in coding exon 3 of the SDHB gene. This alteration results from a A to G … (more)
Uncertain significance
(Apr 09, 2019)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001393084.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces lysine with glutamic acid at codon 80 of the SDHB protein (p.Lys80Glu). The lysine residue is highly conserved and there is … (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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Title Author Journal Year Link
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Panizza E Human molecular genetics 2013 PMID: 23175444
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Neumann HP Cancer research 2009 PMID: 19351833

Text-mined citations for rs1131691051...

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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