NM_133433.4(NIPBL):c.-429del AND De Lange syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000394993.5

Allele description [Variation Report for NM_133433.4(NIPBL):c.-429del]

NM_133433.4(NIPBL):c.-429del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_133433.4(NIPBL):c.-429del

HGVS:

NC_000005.10:g.36876829del
NG_006987.2:g.4947del
NM_015384.5:c.-429del
NM_133433.4:c.-429delMANE SELECT
NC_000005.9:g.36876931del
NG_006987.1:g.4947del
NM_133433.3:c.-429delC

Links:

dbSNP: rs376839773

NCBI 1000 Genomes Browser:

rs376839773

Molecular consequence:

NM_015384.5:c.-429del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_133433.4:c.-429del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: De Lange syndrome (CDLS)
Synonyms:: Cornelia de Lange syndrome; CDL
Identifiers:: MONDO: MONDO:0016033; MedGen: C0270972; Orphanet: 199; OMIM: PS122470

Recent activity

Clear Turn Off Turn On

RING-type domain-containing protein [Caenorhabditis elegans]
RING-type domain-containing protein [Caenorhabditis elegans]
gi|17505504|ref|NP_491737.1|

Protein
Zwei Ig domain protein zig-5 [Caenorhabditis elegans]
Zwei Ig domain protein zig-5 [Caenorhabditis elegans]
gi|71994240|ref|NP_499405.4|

Protein
Homo sapiens mRNA; cDNA DKFZp434H177 (from clone DKFZp434H177)
Homo sapiens mRNA; cDNA DKFZp434H177 (from clone DKFZp434H177)
gi|6453431|emb|AL133030.1|

Nucleotide
Caenorhabditis elegans ABC transporter domain-containing protein (wht-7), partia...
Caenorhabditis elegans ABC transporter domain-containing protein (wht-7), partial mRNA
gi|2220285924|ref|NM_001404165.1|

Nucleotide
F-box associated domain-containing protein [Caenorhabditis elegans]
F-box associated domain-containing protein [Caenorhabditis elegans]
gi|943463909|ref|NP_001303791.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000457249	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000457249

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000457249.2

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

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine