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NM_133433.4(NIPBL):c.8050-5T>A AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 20, 2021
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:
RCV002717731.2

Allele description [Variation Report for NM_133433.4(NIPBL):c.8050-5T>A]

NM_133433.4(NIPBL):c.8050-5T>A

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.8050-5T>A
HGVS:
  • NC_000005.10:g.37064522T>A
  • NG_006987.2:g.192640T>A
  • NM_015384.5:c.*499T>A
  • NM_133433.4:c.8050-5T>AMANE SELECT
  • NC_000005.9:g.37064624T>A
  • NM_133433.3:c.8050-5T>A
Molecular consequence:
  • NM_015384.5:c.*499T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133433.4:c.8050-5T>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV003564017Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 20, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003564017.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.8050-5T>A intronic alteration consists of a T to A substitution 5 nucleotides before exon 47 (coding exon 46) of the NIPBL gene. Based on insufficient or conflicting evidence, 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