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NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 18, 2019
Accession:
VCV000940971.2
Variation ID:
940971
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)

Allele ID
930161
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17024062 (GRCh38) GRCh38 UCSC
1: 17350557 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17350557C>G
NC_000001.11:g.17024062C>G
NG_012340.1:g.35109G>C
... more HGVS
Protein change
E185Q
Other names
-
Canonical SPDI
NC_000001.11:17024061:C:G
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
Uncertain significance 1 criteria provided, single submitter Jun 18, 2019 RCV001210662.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001382159.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with glutamine at codon 185 of the SDHB protein (p.Glu185Gln). The glutamic acid residue is highly conserved and there … (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 Oct 08, 2021