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NM_133433.4(NIPBL):c.4269dup (p.Val1424fs) AND Cornelia de Lange syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004018038.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)]

NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)

Gene:
NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)
HGVS:
  • NC_000005.10:g.37008037dup
  • NG_006987.2:g.136155dup
  • NM_015384.5:c.4269dup
  • NM_133433.4:c.4269dupMANE SELECT
  • NP_056199.2:p.Val1424fs
  • NP_597677.2:p.Val1424fs
  • NC_000005.9:g.37008139dup
Protein change:
V1424fs
Molecular consequence:
  • NM_015384.5:c.4269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133433.4:c.4269dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cornelia de Lange syndrome 1 (CDLS1)
Synonyms:
Typus degenerativus amstelodamensis; Brachmann de Lange syndrome
Identifiers:
MONDO: MONDO:0007387; MedGen: C4551851; Orphanet: 199; OMIM: 122470

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004847223Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 6, 2023) 		de novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome.

Qiao F, Zhang C, Wang Y, Liu G, Shao B, Hu P, Xu Z.

Front Genet. 2021;12:628890. doi: 10.3389/fgene.2021.628890.

PubMed [citation]
PMID:
33633789
PMCID:
PMC7900548

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV004847223.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot provideddiscoverynot providednot providednot providednot provided

Last Updated: Jun 23, 2024