NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) AND Nager syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 7, 2012
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:: RCV000190851.1

Allele description [Variation Report for NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)]

NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)

Gene:

SF3B4:splicing factor 3b subunit 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)

HGVS:

NC_000001.11:g.149923874dup
NG_032777.1:g.9385dup
NM_005850.5:c.1060dupMANE SELECT
NP_005841.1:p.Arg354fs
NC_000001.10:g.149895759_149895760insG
NC_000001.10:g.149895766dup
NC_000001.11:g.149923867_149923868insG
NM_005850.4:c.1060dupC

Protein change:

R354fs

Links:

dbSNP: rs782357237

NCBI 1000 Genomes Browser:

rs782357237

Molecular consequence:

NM_005850.5:c.1060dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Nager syndrome (AFD1)
Synonyms:: Nager acrofacial dysostosis; Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies; AFD, Nager type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007943; MedGen: C0265245; Orphanet: 245; OMIM: 154400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245733	Clinical Genetics Research Group, University of Calgary See additional submitters University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Pathogenic (Sep 7, 2012)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245733

Clinical Genetics Research Group, University of Calgary

See additional submitters

no assertion criteria provided

Pathogenic
(Sep 7, 2012)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium., Majewski J, Nickerson DA, Shendure J, et al.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.

PubMed [citation]

PMID:: 22541558
PMCID:: PMC3376638

Details of each submission

From Clinical Genetics Research Group, University of Calgary, SCV000245733.1

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

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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine