NM_003000.2(SDHB):c.299C>G (p.Ser100Cys) AND Hereditary Paraganglioma-Pheochromocytoma Syndromes

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000590918.3

Allele description [Variation Report for NM_003000.2(SDHB):c.299C>G (p.Ser100Cys)]

NM_003000.2(SDHB):c.299C>G (p.Ser100Cys)

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.299C>G (p.Ser100Cys)
HGVS:
  • NC_000001.11:g.17028724G>C
  • NG_012340.1:g.30447C>G
  • NM_003000.2:c.299C>G
  • NP_002991.2:p.Ser100Cys
  • LRG_316t1:c.299C>G
  • LRG_316:g.30447C>G
  • LRG_316p1:p.Ser100Cys
  • NC_000001.10:g.17355219G>C
Protein change:
S100C
Links:
dbSNP: rs121917755
NCBI 1000 Genomes Browser:
rs121917755
Molecular consequence:
  • NM_003000.2:c.299C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary Paraganglioma-Pheochromocytoma Syndromes (PGL-PCC)
Synonyms:
Hereditary Paragangliomas and Pheochromocytomas
Identifiers:
MONDO: MONDO:0017366; MedGen: C1708353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700144CSER _CC_NCGL, University of Washington - CSER - NEXT Medicine variant annotationcriteria provided, single submitter
Uncertain significance
(Oct 1, 2016)
germlineresearch

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

SCV001252020Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Aug 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - CSER - NEXT Medicine variant annotation, SCV000700144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Found in patient having exome sequencing for an unrelated indication. No history of paraganglioma or pheochromocytoma. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.

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

From Illumina Clinical Services Laboratory,Illumina, SCV001252020.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 8, 2021

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