NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) AND Neurodevelopmental disorder

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001291316.2

Allele description [Variation Report for NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro)]

NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro)

Genes:

FBXO11:F-box protein 11 [Gene - OMIM - HGNC]
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro)

HGVS:

NC_000002.12:g.47809195A>G
NG_008397.1:g.101481T>C
NM_001190274.2:c.2518T>CMANE SELECT
NM_001374325.1:c.2266T>C
NM_025133.4:c.2266T>C
NP_001177203.1:p.Ser840Pro
NP_001177203.1:p.Ser840Pro
NP_001361254.1:p.Ser756Pro
NP_079409.3:p.Ser756Pro
NC_000002.11:g.48036334A>G
NM_001190274.1:c.2518T>C

Protein change:

S756P; SER840PRO

Links:

OMIM: 607871.0003; dbSNP: rs1553335247

NCBI 1000 Genomes Browser:

rs1553335247

Molecular consequence:

NM_001190274.2:c.2518T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374325.1:c.2266T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_025133.4:c.2266T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001479789	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	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

SCV001479789

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

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

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, et al.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

PubMed [citation]

PMID:: 30057029
PMCID:: PMC6080769

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479789.1

#	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: Oct 20, 2024

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