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NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV000822168.3
Variation ID:
822168
Description:
single nucleotide variant
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NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)

Allele ID
810757
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.1
Genomic location
11: 112086917 (GRCh38) GRCh38 UCSC
11: 111957641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.112086917C>T
NC_000011.9:g.111957641C>T
NG_012337.3:g.5071C>T
... more HGVS
Protein change
L4F
Other names
-
Canonical SPDI
NC_000011.10:112086916:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1032016970
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 Sep 18, 2019 RCV001017297.1
Uncertain significance 1 criteria provided, single submitter Aug 14, 2020 RCV001343479.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
421 438

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 18, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001178359.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.L4F variant (also known as c.10C>T), located in coding exon 1 of the SDHD gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV001537465.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces leucine with phenylalanine at codon 4 of the SDHD protein (p.Leu4Phe). The leucine residue is moderately conserved and there is a … (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 rs1032016970...

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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