NM_000141.5(FGFR2):c.*736dup AND Craniosynostosis syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV000361332.6

Allele description [Variation Report for NM_000141.5(FGFR2):c.*736dup]

NM_000141.5(FGFR2):c.*736dup

Gene:

FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q26.13

Genomic location:

Preferred name:

NM_000141.5(FGFR2):c.*736dup

HGVS:

NC_000010.11:g.121479121dup
NG_012449.2:g.124338dup
NM_000141.5:c.*736dupMANE SELECT
NM_001144914.1:c.*736dup
NM_001144915.2:c.*460dup
NM_001144916.2:c.*736dup
NM_001144917.2:c.*736dup
NM_001144918.2:c.*736dup
NM_001320654.2:c.*736dup
NM_001320658.2:c.*736dup
NM_022969.1:c.*736dup
NM_022970.4:c.*736dup
NM_023029.2:c.*736dup
LRG_994t1:c.*736dup
LRG_994t2:c.*736dup
LRG_994:g.124338dup
NC_000010.10:g.123238635dup
NM_000141.4:c.*736dup
NM_000141.4:c.*736dupA
NM_022970.3:c.*736dup
NR_073009.2:n.3638dup

Links:

dbSNP: rs886046762

NCBI 1000 Genomes Browser:

rs886046762

Molecular consequence:

NM_000141.5:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001144914.1:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001144915.2:c.*460dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001144916.2:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001144917.2:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001144918.2:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320654.2:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320658.2:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_023029.2:c.*736dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_073009.2:n.3638dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Craniosynostosis syndrome
Synonyms:: Craniosynostosis
Identifiers:: MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000360728	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000360728

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000360728.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided
2	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 15, 2024

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