NM_003000.2(SDHB):c.418G>T (p.Val140Phe)

NM_003000.2(SDHB):c.418G>T (p.Val140Phe)

Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1:17028605 (on Assembly GRCh38)
  • Chr1:17355100 (on Assembly GRCh37)
Protein change:
V140F
HGVS:
  • NG_012340.1:g.30566G>T
  • NM_003000.2:c.418G>T
  • NC_000001.11:g.17028605C>A (GRCh38)
  • NC_000001.10:g.17355100C>A (GRCh37)
  • NP_002991.2:p.Val140Phe
Links:
NCBI 1000 Genomes Browser:
rs267607032
Molecular consequence:
NM_003000.2:c.418G>T: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_003000.2(SDHB):c.418G>T (p.Val140Phe)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
2 stars out of maximum of 4 stars
classified by multiple submitters
Number of submission(s):
2
Condition(s)
See supporting ClinVar records

1 Affected Gene

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Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Mar 5, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (2)
OMIM
(Dec 30, 2010)
SCV000033881
Likely pathogenic
(Feb 11, 2014)
classified by single submitter
(clinical testing)
clinical testing
  • Neoplastic Syndromes, Hereditary[MedGen]
germlineAmbry Genetics
(Jul 25, 2014)
SCV000187244

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

Ambry Genetics

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
not providednot providednot providedgermlinenot providednot providednot providedclinical testing

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In 2 sibs with paragangliomas-4 (115310), Schimke et al. (2010) identified a heterozygous 418G-T transversion in the SDHB gene, resulting in a val140-to-phe (V140F) substitution. The 55-year-old sister and 49-year-old brother both had paraspinal paragangliomas. The mutation was also found in their unaffected 76-year-old mother, suggesting decreased penetrance or a 'leaky' mutation. The family was of note because a deceased sib had neuroblastoma as an infant, metastatic extraadrenal sympathetic paragangliomas reminiscent of pheochromocytoma as a young adult, and renal cell carcinoma as an adult; this patient had been previously reported by Fairchild et al. (1979) as having unique occurrence of these cancers. In addition, a first cousin of these sibs had died from metastatic renal cell carcinoma and had a history of a benign paraaortic PGL. Schimke et al. (2010) noted the importance of family history in elucidating the etiology of this inherited disorder.

Last Updated: Nov 18, 2014

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