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NM_017841.4(SDHAF2):c.260+2T>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 13, 2020
Accession:
VCV001067722.1
Variation ID:
1067722
Description:
single nucleotide variant
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NM_017841.4(SDHAF2):c.260+2T>C

Allele ID
1056025
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.2
Genomic location
11: 61437850 (GRCh38) GRCh38 UCSC
11: 61205322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.61437850T>C
NC_000011.9:g.61205322T>C
NM_017841.4:c.260+2T>C MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:61437849:T:C
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 Oct 13, 2020 RCV001379058.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHAF2 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
264 275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 13, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Invitae
Accession: SCV001576782.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects a donor splice site in intron 2 of the SDHAF2 gene. It is expected to disrupt RNA splicing and likely results … (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
Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. Zhu WD European journal of medical genetics 2015 PMID: 26096992
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. Piccini V Endocrine-related cancer 2012 PMID: 22241717
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated May 13, 2021