NM_003000.3(SDHB):c.141G>A (p.Trp47Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 27, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001561407.2

Allele description [Variation Report for NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)]

NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)

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.141G>A (p.Trp47Ter)
HGVS:
  • NC_000001.11:g.17044820C>T
  • NG_012340.1:g.14351G>A
  • NM_003000.2:c.141G>A
  • NM_003000.3:c.141G>AMANE SELECT
  • NP_002991.2:p.Trp47Ter
  • NP_002991.2:p.Trp47Ter
  • LRG_316t1:c.141G>A
  • LRG_316:g.14351G>A
  • LRG_316p1:p.Trp47Ter
  • NC_000001.10:g.17371315C>T
  • NC_000001.10:g.17371315C>T
Protein change:
W47*
Links:
dbSNP: rs1060503762
NCBI 1000 Genomes Browser:
rs1060503762
Molecular consequence:
  • NM_003000.2:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003000.3:c.141G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001784010GeneDxcriteria provided, single submitter
Pathogenic
(Jan 27, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001784010.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Identified in patients with SDHB-related cancers (Bayley 2006, Srirangalingam 2008, Bayley 2020); Also known as W19X; This variant is associated with the following publications: (PMID: 31492822, 18419787, 16405730, 28748451, 31579262, 30694796, 21686655, 19184535, 21348866, 19208735, 19802898, 28973655)

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

Last Updated: Oct 25, 2021

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