NM_021969.3(NR0B2):c.227del (p.Phe76fs) AND APC-mutation negative familial colorectal cancer

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000859986.1

Allele description [Variation Report for NM_021969.3(NR0B2):c.227del (p.Phe76fs)]

NM_021969.3(NR0B2):c.227del (p.Phe76fs)

Genes:

NUDC:nuclear distribution C, dynein complex regulator [Gene - OMIM - HGNC]
NR0B2:nuclear receptor subfamily 0 group B member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_021969.3(NR0B2):c.227del (p.Phe76fs)

HGVS:

NC_000001.11:g.26913715del
NG_012143.1:g.5363del
NM_021969.3:c.227delMANE SELECT
NP_068804.1:p.Phe76fs
NC_000001.10:g.27240206del
NC_000001.11:g.26913714_26913714delA
NM_021969.3:c.227delTMANE SELECT

Protein change:

F76fs

Links:

dbSNP: rs779783209

NCBI 1000 Genomes Browser:

rs779783209

Molecular consequence:

NM_021969.3:c.227del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: APC-mutation negative familial colorectal cancer
Identifiers:: MedGen: CN233259

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926958	Colorectal Cancer Research Lab, Singapore General Hospital See additional submitters Human Genetics Lab, Dept of Pediatrics, National University of Singapore	no assertion criteria provided	Likely pathogenic (May 31, 2019)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926958

Colorectal Cancer Research Lab, Singapore General Hospital

See additional submitters

no assertion criteria provided

Likely pathogenic
(May 31, 2019)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	not provided	research

Citations

PubMed

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.

Lam KK, Sethi R, Tan G, Tomar S, Lo M, Loi C, Tang CL, Tan E, Lai PS, Cheah PY.

Genes Chromosomes Cancer. 2021 Feb;60(2):61-72. doi: 10.1002/gcc.22904. Epub 2020 Oct 29.

PubMed [citation]

PMID:: 33094510

Details of each submission

From Colorectal Cancer Research Lab, Singapore General Hospital, SCV000926958.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Jun 9, 2024

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