NM_003000.2(SDHB):c.269G>A (p.Arg90Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000782211.2

Allele description [Variation Report for NM_003000.2(SDHB):c.269G>A (p.Arg90Gln)]

NM_003000.2(SDHB):c.269G>A (p.Arg90Gln)

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_003000.2(SDHB):c.269G>A (p.Arg90Gln)
HGVS:
  • NC_000001.11:g.17033077C>T
  • NG_012340.1:g.26094G>A
  • NM_003000.2:c.269G>A
  • NP_002991.2:p.Arg90Gln
  • LRG_316t1:c.269G>A
  • LRG_316:g.26094G>A
  • LRG_316p1:p.Arg90Gln
  • NC_000001.10:g.17359572C>T
Protein change:
R90Q
Links:
dbSNP: rs570278423
NCBI 1000 Genomes Browser:
rs570278423
Molecular consequence:
  • NM_003000.2:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920696Gharavi Laboratory,Columbia Universityno assertion criteria provided
Uncertain significance
(Sep 16, 2018)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV001433593GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 17, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Gharavi Laboratory,Columbia University, SCV000920696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001433593.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016) In silico analysis supports that this missense variant has a deleterious effect on protein structure/function Published functional studies in yeast demonstrate reduced SDH activity (Panizza 2013) Observed in individuals with SDHB-related tumors (Castellano 2006, Neumann 2009, Hermsen 2010, Curras-Freixes 2015, Bernardo-Castineira 2019)

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

Last Updated: Oct 8, 2021

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