NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: May 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000492138.1

Allele description [Variation Report for NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)]

NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)

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.600G>A (p.Trp200Ter)
HGVS:
  • NC_000001.11:g.17024015C>T
  • NG_012340.1:g.35156G>A
  • NM_003000.2:c.600G>A
  • NM_003000.3:c.600G>AMANE SELECT
  • NP_002991.2:p.Trp200Ter
  • NP_002991.2:p.Trp200Ter
  • LRG_316t1:c.600G>A
  • LRG_316:g.35156G>A
  • LRG_316p1:p.Trp200Ter
  • NC_000001.10:g.17350510C>T
  • c.600G>A
  • p.Trp200X
Protein change:
W200*
Links:
dbSNP: rs397516836
NCBI 1000 Genomes Browser:
rs397516836
Molecular consequence:
  • NM_003000.2:c.600G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003000.3:c.600G>A - nonsense - [Sequence Ontology: SO:0001587]
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
SCV000581191Ambry Geneticscriteria provided, single submitter
Pathogenic
(May 11, 2018)
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, SCV000581191.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.W200* pathogenic mutation (also known as c.600G>A), located in coding exon 6 of the SDHB gene, results from a G to A substitution at nucleotide position 600. This changes the amino acid from a tryptophan to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jul 7, 2021

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