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NM_003000.2(SDHB):c.802A>T (p.Lys268Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 24, 2018
Accession:
VCV000412460.2
Variation ID:
412460
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.802A>T (p.Lys268Ter)

Allele ID
390870
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17018922 (GRCh38) GRCh38 UCSC
1: 17345417 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.802A>T LRG_316p1:p.Lys268Ter
NC_000001.10:g.17345417T>A
NC_000001.11:g.17018922T>A
... more HGVS
Protein change
K268*
Other names
-
Canonical SPDI
NC_000001.11:17018921:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609907
dbSNP: rs1060503755
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 Oct 24, 2018 RCV000473417.3
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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
(Oct 24, 2018)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stroma tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000553992.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the SDHB gene (p.Lys268*). While this is not anticipated to result in nonsense mediated … (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 rs1060503755...

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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