NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs) AND Cornelia de Lange syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 6, 2015
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:: RCV000194449.6

Allele description [Variation Report for NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)]

NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)

Gene:

NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)

HGVS:

NC_000005.10:g.36976355_36976356delinsCTCCCTT
NG_006987.2:g.104473_104474delinsCTCCCTT
NM_015384.5:c.1448_1449delinsCTCCCTT
NM_133433.4:c.1448_1449delinsCTCCCTTMANE SELECT
NP_056199.2:p.Glu483fs
NP_597677.2:p.Glu483fs
NC_000005.9:g.36976457_36976458delinsCTCCCTT
NG_006987.1:g.104473_104474delinsCTCCCTT

Protein change:

E483fs

Links:

dbSNP: rs797045746

NCBI 1000 Genomes Browser:

rs797045746

Molecular consequence:

NM_015384.5:c.1448_1449delinsCTCCCTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133433.4:c.1448_1449delinsCTCCCTT - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000248199	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 6, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000248199

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 6, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000248199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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