NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs) 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:: RCV000190847.1

Allele description [Variation Report for NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)]

NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)

HGVS:

NC_000001.11:g.149923559_149923565del
NG_032777.1:g.9688_9694del
NM_005850.5:c.1252_1258delMANE SELECT
NP_005841.1:p.Leu418fs
NC_000001.10:g.149895451_149895457del
NM_005850.4:c.1252_1258delCTTCGAG

Protein change:

L418fs

Links:

dbSNP: rs797045121

NCBI 1000 Genomes Browser:

rs797045121

Molecular consequence:

NM_005850.5:c.1252_1258del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245727	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)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245727

Clinical Genetics Research Group, University of Calgary

See additional submitters

no assertion criteria provided

Pathogenic
(Sep 7, 2012)

unknown

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	unknown	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, SCV000245727.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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