NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) AND Saethre-Chotzen syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1998
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:: RCV000014207.26

Allele description [Variation Report for NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del)]

NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q26.13

Genomic location:

Preferred name:

NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del)

Other names:

FGFR2, VAL-VAL DEL

HGVS:

NC_000010.11:g.121520109_121520114del
NG_012449.2:g.83345_83350del
NM_000141.5:c.804_809delMANE SELECT
NM_001144913.1:c.804_809del
NM_001144914.1:c.749-4795_749-4790del
NM_001144915.2:c.537_542del
NM_001144916.2:c.459_464del
NM_001144917.2:c.804_809del
NM_001144918.2:c.459_464del
NM_001144919.2:c.537_542del
NM_001320654.2:c.120_125del
NM_001320658.2:c.804_809del
NM_022969.1:c.804_809delAGTGGT
NM_022970.4:c.804_809delAGTGGT
NM_023029.2:c.537_542del
NP_000132.3:p.Val269_Val270del
NP_000132.3:p.Val269_Val270del
NP_000132.3:p.Val269_Val270del
NP_001138385.1:p.Val269_Val270del
NP_001138387.1:p.Val180_Val181del
NP_001138388.1:p.Val154_Val155del
NP_001138389.1:p.Val269_Val270del
NP_001138390.1:p.Val154_Val155del
NP_001138391.1:p.Val180_Val181del
NP_001307583.1:p.Val41_Val42del
NP_001307587.1:p.Val269_Val270del
NP_075258.1:p.Val269_Val270del
NP_075259.4:p.Val269_Val270del
NP_075259.4:p.Val269_Val270del
NP_075418.1:p.Val180_Val181del
LRG_994t1:c.804_809del
LRG_994t2:c.804_809del
LRG_994:g.83345_83350del
LRG_994p1:p.Val269_Val270del
LRG_994p2:p.Val269_Val270del
NC_000010.10:g.123279623_123279628del
NM_000141.4:c.804_809del
NM_000141.4:c.804_809delAGTGGT
NM_022970.3:c.804_809del
NR_073009.2:n.1092_1097del

Nucleotide change:

VAL-VAL DEL

Links:

OMIM: 176943.0023; dbSNP: rs879253718

NCBI 1000 Genomes Browser:

rs879253718

Molecular consequence:

NM_000141.5:c.804_809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001144913.1:c.804_809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001144915.2:c.537_542del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001144916.2:c.459_464del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001144917.2:c.804_809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001144918.2:c.459_464del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001144919.2:c.537_542del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001320654.2:c.120_125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001320658.2:c.804_809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_023029.2:c.537_542del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_022969.1:c.804_809delAGTGGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_022970.4:c.804_809delAGTGGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144914.1:c.749-4795_749-4790del - intron variant - [Sequence Ontology: SO:0001627]
NR_073009.2:n.1092_1097del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Saethre-Chotzen syndrome (SCS)
Synonyms:: ACS III; Acrocephalo-syndactyly, type 3; Chotzen syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007042; MedGen: C0175699; Orphanet: 794; OMIM: 101400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034455	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034455

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1998)

germline

literature only

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

Citations

PubMed

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW.

Am J Hum Genet. 1998 Jun;62(6):1370-80.

PubMed [citation]

PMID:: 9585583
PMCID:: PMC1377134

Details of each submission

From OMIM, SCV000034455.2

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

Description

In a molecular study of 32 unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, Paznekas et al. (1998) found a single patient who had a val-val (codons 269 and 270) deletion in the FGFR2 gene. The patient had all the features, except digital anomalies, that occur in 33% or more of all patients with mutations in the TWIST1 gene (601622), which is the predominant site of mutations in this syndrome. The most common phenotypic features were coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, ptosis, hypertelorism, broad great toes, and clinodactyly. Significant intra- and interfamilial phenotypic variability was present for either TWIST mutations or FGFR mutations. The overlapping clinical features and the presence, in the same genes, of mutations for more than one craniosynostotic condition, such as Saethre-Chotzen, Crouzon, and Pfeiffer syndromes, supported the hypothesis that TWIST and FGFRs are components of the same molecular pathway involved in the modulation of craniofacial and limb development in humans. Paznekas et al. (1998) stated that more than 35 different TWIST mutations had been described in Saethre-Chotzen syndrome patients.

#	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

Last Updated: Nov 13, 2022

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