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NM_133433.4(NIPBL):c.6069T>C (p.His2023=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 6, 2016
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:
RCV002318693.9

Allele description [Variation Report for NM_133433.4(NIPBL):c.6069T>C (p.His2023=)]

NM_133433.4(NIPBL):c.6069T>C (p.His2023=)

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.6069T>C (p.His2023=)
HGVS:
  • NC_000005.10:g.37038699T>C
  • NG_006987.2:g.166817T>C
  • NM_015384.5:c.6069T>C
  • NM_133433.4:c.6069T>CMANE SELECT
  • NP_056199.2:p.His2023=
  • NP_597677.2:p.His2023=
  • NC_000005.9:g.37038801T>C
  • NG_006987.1:g.166817T>C
  • NM_133433.3:c.6069T>C
Links:
dbSNP: rs1561196903
NCBI 1000 Genomes Browser:
rs1561196903
Molecular consequence:
  • NM_015384.5:c.6069T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133433.4:c.6069T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000849985Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 6, 2016) 		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, SCV000849985.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024