NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) AND Stromme syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 20, 2022
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:: RCV000170525.4

Allele description [Variation Report for NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)]

NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)

Gene:

CENPF:centromere protein F [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)

HGVS:

NC_000001.11:g.214657139C>T
NG_046787.1:g.58961C>T
NM_016343.4:c.8692C>TMANE SELECT
NP_057427.3:p.Arg2898Ter
NC_000001.10:g.214830482C>T
NM_016343.3:c.8692C>T

Protein change:

R2898*; ARG2898TER

Links:

OMIM: 600236.0003; dbSNP: rs786205697

NCBI 1000 Genomes Browser:

rs786205697

Molecular consequence:

NM_016343.4:c.8692C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Stromme syndrome (STROMS)
Synonyms:: APPLE PEEL SYNDROME WITH MICROCEPHALY AND OCULAR ANOMALIES; Ciliary dyskinesia, primary, 31
Identifiers:: MONDO: MONDO:0009477; MedGen: C1855705; Orphanet: 444069; OMIM: 243605

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
SCV000223090	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002786814	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 20, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223090

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2015)

germline

literature only

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

SCV002786814

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 20, 2022)

unknown

clinical testing

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, et al.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

PubMed [citation]

PMID:: 25564561
PMCID:: PMC4345935

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 OMIM, SCV000223090.1

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

Description

For discussion of the arg2898-to-ter (R2898X) (c.8692C-T, NM_016343.3) mutation in the CENPF gene that was found in compound heterozygous state in a patient with Stromme syndrome (STROMS; 243605) by Waters et al. (2015), see 600236.0001.

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

From Fulgent Genetics, Fulgent Genetics, SCV002786814.1

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

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

Last Updated: Jan 7, 2023

ClinVar

Relating variation to medicine