NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter) AND Cornelia de Lange syndrome 1

Clinical significance:Pathogenic (Last evaluated: Dec 30, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000178016.1

Allele description [Variation Report for NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter)]

NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter)

Gene:
NIPBL:NIPBL, cohesin loading factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter)
HGVS:
  • NC_000005.10:g.37048613T>G
  • NG_006987.1:g.176731T>G
  • NM_015384.4:c.6701T>G
  • NM_133433.3:c.6701T>G
  • NP_056199.2:p.Leu2234Ter
  • NP_597677.2:p.Leu2234Ter
  • NC_000005.9:g.37048715T>G
  • NP_597677.2:p.Leu2234*
Protein change:
L2234*
Links:
dbSNP: rs727504047
NCBI 1000 Genomes Browser:
rs727504047
Molecular consequence:
  • NM_133433.3:c.6701T>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Cornelia de Lange syndrome 1 (CDLS1)
Synonyms:
Brachmann de Lange syndrome
Identifiers:
MedGen: CN029798; Orphanet: 199; OMIM: 122470

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000229985EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Dec 30, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000229985.4

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

Last Updated: Jul 21, 2018