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NM_003000.3(SDHB):c.700C>T (p.Leu234=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jul 2, 2022
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002061161.18

Allele description [Variation Report for NM_003000.3(SDHB):c.700C>T (p.Leu234=)]

NM_003000.3(SDHB):c.700C>T (p.Leu234=)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.700C>T (p.Leu234=)
HGVS:
  • NC_000001.11:g.17022673G>A
  • NG_012340.1:g.36498C>T
  • NM_003000.3:c.700C>TMANE SELECT
  • NP_002991.2:p.Leu234=
  • NP_002991.2:p.Leu234=
  • LRG_316t1:c.700C>T
  • LRG_316:g.36498C>T
  • LRG_316p1:p.Leu234=
  • NC_000001.10:g.17349168G>A
  • NM_003000.2:c.700C>T
Links:
dbSNP: rs201728852
NCBI 1000 Genomes Browser:
rs201728852
Molecular consequence:
  • NM_003000.3:c.700C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002496464CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Jan 1, 2022)
germlineclinical testing

Citation Link,

SCV002562383GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jul 2, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002496464.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV002562383.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this variant does not alter splicing; Identified in individuals with pheochromocytoma or paraganglioma (Ben Aim et al., 2019); Also known as p.L206=; This variant is associated with the following publications: (PMID: 30877234)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024