NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Feb 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001266192.1

Allele description [Variation Report for NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)]

NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)

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>T (p.Ser100Phe)
HGVS:
  • NC_000001.11:g.17028724G>A
  • NG_012340.1:g.30447C>T
  • NM_003000.2:c.299C>T
  • NP_002991.2:p.Ser100Phe
  • LRG_316t1:c.299C>T
  • LRG_316:g.30447C>T
  • LRG_316p1:p.Ser100Phe
  • NC_000001.10:g.17355219G>A
  • P21912:p.Ser100Phe
Protein change:
S100F; SER100PHE
Links:
UniProtKB: P21912#VAR_037620; OMIM: 185470.0011; dbSNP: rs121917755
NCBI 1000 Genomes Browser:
rs121917755
Molecular consequence:
  • NM_003000.2:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV001444364Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Feb 7, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

Pollard PJ, Brière JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IP.

Hum Mol Genet. 2005 Aug 1;14(15):2231-9. Epub 2005 Jun 29.

PubMed [citation]
PMID:
15987702

Somatic SDHB mutation in an extraadrenal pheochromocytoma.

van Nederveen FH, Korpershoek E, Lenders JW, de Krijger RR, Dinjens WN.

N Engl J Med. 2007 Jul 19;357(3):306-8. No abstract available.

PubMed [citation]
PMID:
17634472

Details of each submission

From Ambry Genetics, SCV001444364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 26, 2020

Support Center