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NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 21, 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:
RCV002320381.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp)]

NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp)

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.313A>G (p.Asn105Asp)
HGVS:
  • NC_000005.10:g.36958186A>G
  • NG_006987.2:g.86304A>G
  • NM_015384.5:c.313A>G
  • NM_133433.4:c.313A>GMANE SELECT
  • NP_056199.2:p.Asn105Asp
  • NP_597677.2:p.Asn105Asp
  • NC_000005.9:g.36958288A>G
  • NG_006987.1:g.86304A>G
  • NM_133433.3:c.313A>G
Protein change:
N105D
Links:
dbSNP: rs376768802
NCBI 1000 Genomes Browser:
rs376768802
Molecular consequence:
  • NM_015384.5:c.313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133433.4:c.313A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002607655Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 21, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S.

Genet Med. 2016 Feb;18(2):189-98. doi: 10.1038/gim.2015.60. Epub 2015 May 21.

PubMed [citation]
PMID:
25996639
PMCID:
PMC5988035

Details of each submission

From Ambry Genetics, SCV002607655.2

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

Description

The p.N105D variant (also known as c.313A>G), located in coding exon 3 of the NIPBL gene, results from an A to G substitution at nucleotide position 313. The asparagine at codon 105 is replaced by aspartic acid, an amino acid with highly similar properties. This alteration was detected in an individual with atrioventricular septal defect (AVSD) who underwent whole exome sequencing (D'Alessandro LC et al. Genet. Med., 2016 Feb;18:189-98). 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.

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

Last Updated: May 1, 2024