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NM_001294332.1(SDHA):c.-84dup

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000353198.2
Variation ID:
353198
Description:
1bp duplication
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NM_001294332.1(SDHA):c.-84dup

Allele ID
299304
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5p15.33
Genomic location
5: 218266-218267 (GRCh38) GRCh38 UCSC
5: 218381-218382 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.218272dup
NC_000005.9:g.218387dup
NG_012339.1:g.5032dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:218266:CCCCCC:CCCCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
0.24701 (CCCCCCC)

Allele frequency
-
Links
ClinGen: CA10621606
dbSNP: rs35805262
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000307350.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000370159.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000399941.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHA - - GRCh38
GRCh37
1392 1539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000456956.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Mitochondrial Respiratory Chain Complex II Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000456957.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Leigh Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000456958.2
Submitted: (Oct 18, 2016)
Evidence details

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 rs35805262...

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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 Sep 29, 2021