NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 9, 2017
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:: RCV002449712.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp)]

NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp)

HGVS:

NC_000005.10:g.36975776G>A
NG_006987.2:g.103894G>A
NM_015384.5:c.869G>A
NM_133433.4:c.869G>AMANE SELECT
NP_056199.2:p.Gly290Asp
NP_597677.2:p.Gly290Asp
NC_000005.9:g.36975878G>A
NM_133433.3:c.869G>A

Protein change:

G290D

Molecular consequence:

NM_015384.5:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133433.4:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Mus musculus secretoglobin, family 1A, member 1 (uteroglobin), mRNA (cDNA clone ...
Mus musculus secretoglobin, family 1A, member 1 (uteroglobin), mRNA (cDNA clone MGC:41130 IMAGE:1434396), complete cds
gi|20380302|gb|BC027518.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002682195	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002682195

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 9, 2017)

germline

clinical testing

Citation Link

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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, SCV002682195.2

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

Description

The p.G290D variant (also known as c.869G>A) is located in coding exon 8 of the NIPBL gene. The glycine at codon 290 is replaced by aspartic acid, an amino acid with similar properties. This change occurs in the first base pair of coding exon 8. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

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