NM_003000.2(SDHB):c.268C>G (p.Arg90Gly) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 5, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000165299.1

Allele description [Variation Report for NM_003000.2(SDHB):c.268C>G (p.Arg90Gly)]

NM_003000.2(SDHB):c.268C>G (p.Arg90Gly)

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.268C>G (p.Arg90Gly)
HGVS:
  • NC_000001.11:g.17033078G>C
  • NG_012340.1:g.26093C>G
  • NM_003000.2:c.268C>G
  • NP_002991.2:p.Arg90Gly
  • LRG_316t1:c.268C>G
  • LRG_316:g.26093C>G
  • LRG_316p1:p.Arg90Gly
  • NC_000001.10:g.17359573G>C
  • p.R90G
Protein change:
R90G
Links:
dbSNP: rs74315366
NCBI 1000 Genomes Browser:
rs74315366
Molecular consequence:
  • NM_003000.2:c.268C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000216018Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 5, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000216018.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R90G variant (also known as c.268C>G), located in coding exon 3 of the SDHB gene, results from a C to G substitution at nucleotide position 268. The arginine at codon 90 is replaced by glycine, an amino acid with dissimilar properties. Another amino acid substitution at codon 90, p.R90Q, has been reported in multiple paraganglioma kindreds to date (Castellano et al. Ann NY Acad Sci 2006 Aug; 1073:156-65; Neumann et al. Cancer Res 2009 Apr15; 69(8). Supplementary table1; http://chromium.liacs.nl/lovd_sdh/variants.php). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

Support Center