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NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 11, 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:
RCV002371984.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)]

NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)

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.7168G>A (p.Ala2390Thr)
HGVS:
  • NC_000005.10:g.37052471G>A
  • NG_006987.2:g.180589G>A
  • NM_015384.5:c.7168G>A
  • NM_133433.4:c.7168G>AMANE SELECT
  • NP_056199.2:p.Ala2390Thr
  • NP_597677.2:p.Ala2390Thr
  • NC_000005.9:g.37052573G>A
  • NG_006987.1:g.180589G>A
  • NM_133433.3:c.7168G>A
  • Q6KC79:p.Ala2390Thr
Protein change:
A2390T
Links:
UniProtKB: Q6KC79#VAR_021607; dbSNP: rs587784036
NCBI 1000 Genomes Browser:
rs587784036
Molecular consequence:
  • NM_015384.5:c.7168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133433.4:c.7168G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002662783Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Apr 11, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002662783.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.A2390T variant (also known as c.7168G>A), located in coding exon 41 of the NIPBL gene, results from a G to A substitution at nucleotide position 7168. The alanine at codon 2390 is replaced by threonine, an amino acid with similar properties. This variant was identified in 2 individuals with Cornelia de Lange syndrome. In one individual, this alteration occurred de novo, although paternity was not confirmed (Gillis LA et al. Am. J. Hum. Genet., 2004 Oct;75:610-23). The other individual was mosaic for this alteration; it was detected in buccal cells, but was absent in lymphocytes (Mannini L et al. Hum. Mutat., 2013 Dec;34:1589-96). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024