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NM_003002.4(SDHD):c.148C>G (p.His50Asp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 17, 2020
Accession:
VCV000431847.6
Variation ID:
431847
Description:
single nucleotide variant
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NM_003002.4(SDHD):c.148C>G (p.His50Asp)

Allele ID
425903
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.1
Genomic location
11: 112087952 (GRCh38) GRCh38 UCSC
11: 111958676 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.112087952C>G
NC_000011.9:g.111958676C>G
NG_012337.3:g.6106C>G
... more HGVS
Protein change
H50D
Other names
-
Canonical SPDI
NC_000011.10:112087951:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382617089
dbSNP: rs779249550
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 May 19, 2017 RCV000497964.1
Likely pathogenic 1 criteria provided, single submitter Dec 13, 2019 RCV000569506.2
Likely pathogenic 1 criteria provided, single submitter Sep 17, 2020 RCV000641047.3
Uncertain significance 1 no assertion criteria provided - RCV000505346.1
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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
424 442

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 19, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589392.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The H50D variant has previously been reported in at least one individual with bilateral carotid body paragangliomas (Kung and Oh, 2011). This variant is not … (more)
Likely pathogenic
(Dec 13, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000664535.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.H50D variant (also known as c.148C>G), located in coding exon 2 of the SDHD gene, results from a C to G substitution at nucleotide … (more)
Likely pathogenic
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV000762665.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with aspartic acid at codon 50 of the SDHD protein (p.His50Asp). The histidine residue is moderately conserved and there is … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: research
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Section on Medical Neuroendocrinolgy,National Institutes of Health
Accession: SCV000599536.1
Submitted: (Jul 10, 2017)
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 rs779249550...

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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 Nov 27, 2021