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NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 15, 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:
RCV000584815.3

Allele description [Variation Report for NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)]

NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)

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.1230_1249del (p.Pro411fs)
HGVS:
  • NC_000001.11:g.149923572_149923591del
  • NG_032777.1:g.9666_9685del
  • NM_005850.5:c.1230_1249delMANE SELECT
  • NP_005841.1:p.Pro411fs
  • NC_000001.10:g.149895464_149895483del
  • NM_005850.4:c.1230_1249delACCAGTTCCCCCTCGAGGCC
Protein change:
P411fs
Links:
dbSNP: rs797045954
NCBI 1000 Genomes Browser:
rs797045954
Molecular consequence:
  • NM_005850.5:c.1230_1249del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Micrognathia
Identifiers:
MedGen: C0025990; Human Phenotype Ontology: HP:0000347
Name:
Malar flattening
Synonyms:
Flat midface
Identifiers:
MedGen: C1858085; Human Phenotype Ontology: HP:0000272
Name:
Stenosis of the external auditory canal
Identifiers:
MedGen: C0395837; Human Phenotype Ontology: HP:0000402
Name:
Midface retrusion
Identifiers:
MedGen: C1853242; Human Phenotype Ontology: HP:0011800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692546Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 15, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic,unspecifiedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000692546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic,unspecifiednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providedvalidation
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Apr 9, 2023