NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000315588.3

Allele description [Variation Report for NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)]

NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)
HGVS:
  • NC_000004.12:g.52038229G>A
  • NG_008891.1:g.5091C>T
  • NM_000232.4:c.31C>T
  • NP_000223.1:p.Gln11Ter
  • LRG_204t1:c.31C>T
  • LRG_204:g.5091C>T
  • LRG_204p1:p.Gln11Ter
  • NC_000004.11:g.52904395G>A
Protein change:
Q11*
Links:
dbSNP: rs752492870
NCBI 1000 Genomes Browser:
rs752492870
Molecular consequence:
  • NM_000232.4:c.31C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337151EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 5, 2015)
germlineclinical testing

Citation Link,

SCV001502459CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Mar 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337151.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001502459.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Jul 10, 2021

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