NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000572596.3

Allele description [Variation Report for NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)]

NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)

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_003000.3(SDHB):c.455C>T (p.Ser152Phe)
HGVS:
  • NC_000001.11:g.17027834G>A
  • NG_012340.1:g.31337C>T
  • NM_003000.2:c.455C>T
  • NM_003000.3:c.455C>TMANE SELECT
  • NP_002991.2:p.Ser152Phe
  • NP_002991.2:p.Ser152Phe
  • LRG_316t1:c.455C>T
  • LRG_316:g.31337C>T
  • LRG_316p1:p.Ser152Phe
  • NC_000001.10:g.17354329G>A
Protein change:
S152F
Links:
dbSNP: rs200414835
NCBI 1000 Genomes Browser:
rs200414835
Molecular consequence:
  • NM_003000.2:c.455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003000.3:c.455C>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000664481Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jul 15, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

Currás-Freixes M, Inglada-Pérez L, Mancikova V, Montero-Conde C, Letón R, Comino-Méndez I, Apellániz-Ruiz M, Sánchez-Barroso L, Aguirre Sánchez-Covisa M, Alcázar V, Aller J, Álvarez-Escolá C, Andía-Melero VM, Azriel-Mira S, Calatayud-Gutiérrez M, Díaz JÁ, Díez-Hernández A, Lamas-Oliveira C, Marazuela M, Matias-Guiu X, Meoro-Avilés A, Patiño-García A, et al.

J Med Genet. 2015 Oct;52(10):647-56. doi: 10.1136/jmedgenet-2015-103218. Epub 2015 Aug 12.

PubMed [citation]
PMID:
26269449

Details of each submission

From Ambry Genetics, SCV000664481.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.S152F variant (also known as c.455C>T), located in coding exon 5 of the SDHB gene, results from a C to T substitution at nucleotide position 455. The serine at codon 152 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This alteration has been reported as a variant of uncertain significance in a cohort of 329 individuals with a personal history of pheochromocytoma and/or paraganglioma (PPGL), with no syndromic and no PPGL family history (Currás-Freixes M et al. J. Med. Genet. 2015 Oct;52:647-56). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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 25, 2021

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