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NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 27, 2020
Accession:
VCV000995676.1
Variation ID:
995676
Description:
single nucleotide variant
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NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)

Allele ID
981268
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.3
Genomic location
1: 161362362 (GRCh38) GRCh38 UCSC
1: 161332152 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.161362362C>T
NC_000001.10:g.161332152C>T
NM_003001.5:c.439C>T MANE Select NP_002992.1:p.Gln147Ter nonsense
... more HGVS
Protein change
P58L, P92L, Q113*, Q147*, Q94*
Other names
-
Canonical SPDI
NC_000001.11:161362361:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 27, 2020 RCV001289819.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
493 522

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 27, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001477812.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The SDHC c.439C>T; p.Gln147Ter variant is reported in the medical literature in an individual with paraganglioma (Schiavi 2005, Schiavi 2006). This variant is absent from … (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.

Record last updated Jan 30, 2021