NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del) AND Cornelia de Lange syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 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:: RCV003991299.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del)]

NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del)

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.7050_7052del (p.Gly2351del)

HGVS:

NC_000005.10:g.37051874_37051876del
NG_006987.2:g.179992_179994del
NM_015384.5:c.7050_7052del
NM_133433.4:c.7050_7052delMANE SELECT
NP_056199.2:p.Gly2351del
NP_597677.2:p.Gly2351del
NC_000005.9:g.37051976_37051978del

Protein change:

G2351del

Molecular consequence:

NM_015384.5:c.7050_7052del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_133433.4:c.7050_7052del - inframe deletion - [Sequence Ontology: SO:0001822]

Observations:

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
SCV004808628	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Uncertain significance (Sep 13, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004808628

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Uncertain significance
(Sep 13, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808628.1

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

Description

ACMG Criteria: PM2_SUP, PM4_SUP, PP3 (ACMG Version 4)

#	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		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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