NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2018
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:: RCV002341517.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer)]

NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer)

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.4760_4763del (p.Ser1586_Leu1587insTer)

HGVS:

NC_000005.10:g.37016154_37016157del
NG_006987.2:g.144272_144275del
NM_015384.5:c.4760_4763del
NM_133433.4:c.4760_4763delMANE SELECT
NP_056199.2:p.Ser1586_Leu1587insTer
NP_597677.2:p.Ser1586_Leu1587insTer
NC_000005.9:g.37016256_37016259del
NG_006987.1:g.144272_144275del
NM_133433.3:c.4760_4763delTGTT

Links:

dbSNP: rs1554024009

NCBI 1000 Genomes Browser:

rs1554024009

Molecular consequence:

NM_015384.5:c.4760_4763del - nonsense - [Sequence Ontology: SO:0001587]
NM_133433.4:c.4760_4763del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

synaptotagmin-7 isoform 2 [Homo sapiens]
synaptotagmin-7 isoform 2 [Homo sapiens]
gi|38570146|ref|NP_004191.2|

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
SCV002640377	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 9, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002640377

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 9, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002640377.2

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

Description

The c.4760_4763delTGTT pathogenic mutation, located in coding exon 22 of the NIPBL gene, results from a deletion of 4 nucleotides at nucleotide positions 4760 to 4763, causing a translational frameshift with a predicted alternate stop codon (p.L1587*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

ClinVar

Relating variation to medicine