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NM_133433.4(NIPBL):c.6955-9dup AND Orofacial cleft 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 2022
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:
RCV003320896.1

Allele description [Variation Report for NM_133433.4(NIPBL):c.6955-9dup]

NM_133433.4(NIPBL):c.6955-9dup

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.6955-9dup
HGVS:
  • NC_000005.10:g.37051770dup
  • NG_006987.2:g.179888dup
  • NM_015384.5:c.6955-9dup
  • NM_133433.4:c.6955-9dupMANE SELECT
  • NC_000005.9:g.37051861_37051862insT
  • NC_000005.9:g.37051872dup
Molecular consequence:
  • NM_015384.5:c.6955-9dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133433.4:c.6955-9dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Orofacial cleft 1 (OFC1)
Synonyms:
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1; OROFACIAL CLEFT, NONSYNDROMIC; Nonsyndromic Cleft Lip/Palate
Identifiers:
MONDO: MONDO:0007335; MeSH: C566121; MedGen: C1861537; OMIM: 119530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004025908Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 22, 2022) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

DOI:10.3346/JKMS.2010.25.12.1821

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Admixed hispanicgermlineyes1not providednot providednot providednot providedresearch
Admixed hispanicgermlineno3not providednot providednot providednot providedresearch

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

Details of each submission

From Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana, SCV004025908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Admixed hispanic1not providednot providedresearch PubMed (1)
2Admixed hispanic2not providednot providedresearch PubMed (1)
3Admixed hispanic1not providednot providedresearch PubMed (1)

Description

VUS predicted to be pathogenic by its phyloP score in intron 40 of NIPBL, a gene implicated in morphogenetic processes, development of reproductive structures and sister chromatid cohesion, with a known association with Cornelia de Lange syndrome 1, a condition marked by atypical facial features (such as cleft palate), stunted growth, deformities in the limbs, and cognitive impairment.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlinenonot providednot providednot provided2not providednot providednot provided
3germlinenonot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024