ClinVar Genomic variation as it relates to human health
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
Variation ID: 13286 Accession: VCV000013286.21
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q26.13 10: 121517351 (GRCh38) [ NCBI UCSC ] 10: 123276865 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 9, 2016 Oct 8, 2024 Sep 25, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000141.5:c.1052C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000132.3:p.Ser351Cys missense NM_022970.4:c.1087+1331C>G MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_001144913.1:c.1087+1331C>G intron variant NM_001144914.1:c.749-2032C>G intron variant NM_001144915.2:c.785C>G NP_001138387.1:p.Ser262Cys missense NM_001144916.2:c.707C>G NP_001138388.1:p.Ser236Cys missense NM_001144917.2:c.939+2628C>G intron variant NM_001144918.2:c.707C>G NP_001138390.1:p.Ser236Cys missense NM_001144919.2:c.820+1331C>G intron variant NM_001320654.2:c.368C>G NP_001307583.1:p.Ser123Cys missense NM_001320658.2:c.1052C>G NP_001307587.1:p.Ser351Cys missense NM_023029.2:c.785C>G NP_075418.1:p.Ser262Cys missense NR_073009.2:n.1488C>G non-coding transcript variant NC_000010.11:g.121517351G>C NC_000010.10:g.123276865G>C NG_012449.2:g.86108C>G LRG_994:g.86108C>G LRG_994t1:c.1052C>G LRG_994p1:p.Ser351Cys P21802:p.Ser351Cys - Protein change
- S351C, S123C, S262C, S236C
- Other names
- (p.Ser351Cys)
- Canonical SPDI
- NC_000010.11:121517350:G:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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FGFR2 | - | - |
GRCh38 GRCh37 |
753 | 807 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
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Aug 1, 2005 | RCV000014208.27 | |
Pathogenic (2) |
no assertion criteria provided
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May 13, 2021 | RCV000014209.21 | |
Pathogenic (3) |
criteria provided, single submitter
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Aug 11, 2023 | RCV000256107.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Sep 17, 2016 | RCV000415503.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 25, 2023 | RCV000528973.11 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV003313920.2 | |
FGFR2-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Sep 4, 2024 | RCV004737152.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jul 30, 2015)
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criteria provided, single submitter
Method: clinical testing
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Pfeiffer syndrome
Affected status: yes
Allele origin:
de novo
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Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Study: Clinvar_gadteam_Clinical_exome_analysis_3
Accession: SCV000803777.1 First in ClinVar: Aug 24, 2018 Last updated: Aug 24, 2018 |
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Pathogenic
(Sep 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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FGFR2-related craniosynostosis
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000659607.7
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, … (more)
For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FGFR2 protein function. ClinVar contains an entry for this variant (Variation ID: 13286). This missense change has been observed in individual(s) with severe forms of Crouzon or Pfeiffer syndromes (PMID: 8946174, 10406670, 16418739, 23348274, 24656465). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 351 of the FGFR2 protein (p.Ser351Cys). (less)
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Pathogenic
(Sep 17, 2016)
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criteria provided, single submitter
Method: clinical testing
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Pfeiffer syndrome
Affected status: yes
Allele origin:
germline
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000328398.2
First in ClinVar: Jan 20, 2017 Last updated: Mar 04, 2023
Comment:
Clinical Testing
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Number of individuals with the variant: 7
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Crouzon syndrome
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV004013785.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which … (more)
The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.61; 3Cnet: 0.72). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000013286 / PMID: 8946174). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Intellectual disability (present) , Abnormal facial shape (present) , Neurodevelopmental delay (present) , Visual impairment (present) , Arthrogryposis multiplex congenita (present) , Craniosynostosis syndrome (present)
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Pathogenic
(Aug 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000322317.10
First in ClinVar: Oct 09, 2016 Last updated: Aug 31, 2023 |
Comment:
Recurrent variant in the immunoglobulin-like domain 3, typically associated with a severe form of Pfeiffer syndrome (Lajeunie et al., 2006; Stevens et al., 2006); Not … (more)
Recurrent variant in the immunoglobulin-like domain 3, typically associated with a severe form of Pfeiffer syndrome (Lajeunie et al., 2006; Stevens et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 8946174, 23754559, 16955501, 18391498, 34909104, 34367232, 30976282, 9714439, 10406670, 24127277, 23348274, 12544231, 20818252, 9605588, 15996217, 12072807, 16760743, 10633130, 29436723, 29280877, 29230096, 16465081, 9693549, 30355600, 31301044, 16418739, 31222448, 30976276, 32333414, 32732226, 34580403) (less)
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Pathogenic
(Aug 01, 2005)
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no assertion criteria provided
Method: literature only
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PFEIFFER SYNDROME, TYPE III
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000034456.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 12, 2018 |
Comment on evidence:
Cohen (1993) defined 3 clinical subtypes of Pfeiffer syndrome (101600). Type I is the common 'classic' type, presenting with craniosynostosis and broad thumbs and first … (more)
Cohen (1993) defined 3 clinical subtypes of Pfeiffer syndrome (101600). Type I is the common 'classic' type, presenting with craniosynostosis and broad thumbs and first toes in patients with normal or near-normal intelligence. Soft tissue syndactyly, symphalangism, and elbow ankylosis may be present. This condition is compatible with survival and reproduction; thus it frequently is familial, inherited as an autosomal dominant. Pfeiffer syndrome type II is more severe than type I, presenting with cloverleaf skull due to pansynostosis, severe ocular proptosis, and central nervous system involvement; a variety of low-frequency abnormalities, such as intestinal malrotation and tracheal stenosis also occur in this disorder. Elbow ankylosis occurs with the highest frequency in this type. Because of early death and failure to reproduce, this phenotype has been observed only as a sporadic mutation. Similarly severely affected cases, but without cloverleaf skull, have been called Pfeiffer syndrome type III. Gripp et al. (1998) found a ser351-to-cys (S351C) mutation in the FGFR2 gene in a patient considered to have Pfeiffer syndrome type III. The patient had pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal nonrotation, and severe developmental delay. Skeletal abnormalities included bilateral elbow ankylosis, radial head dislocation, and unilateral broad and deviated first toe. The patient was unusual for the lack of broad thumbs. The patient most closely resembled one described by Kerr et al. (1996) as a case of Pfeiffer syndrome type III with normal thumbs. In a note added in proof, Gripp et al. (1998) stated that heterozygosity for a cys342-to-arg substitution (176943.0002) of the FGFR2 gene had been found in the patient reported by Kerr et al. (1996). Thus Pfeiffer syndrome appears to be heterogeneous. Okajima et al. (1999) evaluated 3 unrelated patients with severe Crouzon or Pfeiffer syndrome. Two of them had ocular findings consistent with Peters anomaly, and the third patient had opaque corneae, thickened irides and ciliary bodies, and shallow anterior chambers with occluded angles. Craniosynostosis with and without cloverleaf skull deformity, large anterior fontanel, hydrocephalus, proptosis, depressed nasal bridge, choanal stenosis/atresia, midface hypoplasia, and elbow contractures were also present. These patients had airway compromise and seizures, and 2 died by age 15 months. All 3 cases were found to have the same FGFR2 S351C (1231C-to-G) mutation predicted to form an aberrant disulfide bond(s) and affect ligand binding. Seven patients with isolated Peters anomaly, 2 patients with Peters plus syndrome, and 3 cases of typical Antley-Bixler syndrome were screened for this mutation, but none was found. In a patient with clinical manifestations that they found consistent with those of Antley-Bixler syndrome (ABS2; 207410), Chun et al. (1998) identified a heterozygous C-to-G transversion at nucleotide 1064 of the FGFR2 gene, resulting in an S351C substitution in the IgIII domain of the protein. In addition to craniosynostosis and elbow ankylosis, the patient presented with severe spinal dysraphism. Gorlin (1999) and Gripp et al. (1999) suggested that the patient of Chun et al. (1998) did not have Antley-Bixler syndrome but a nonspecific craniosynostosis syndrome. Chitayat and Chun (1999) in response reiterated the importance of looking for a mutation in the FGFR2 gene prior to informing parents that the recurrence risk of a similar condition is 25%. In 3 patients with Antley-Bixler syndrome, Reardon et al. (2000) identified the S351C substitution in the FGFR2 gene. The patients all had normal-appearing genitalia, and the steroid profile was normal in the 2 patients in whom it was carried out. In 3 fetuses diagnosed prenatally with severe Pfeiffer syndrome, Gonzales et al. (2005) identified heterozygosity for the S351C substitution in the FGFR2 gene. All 3 patients had a cartilaginous tracheal sleeve at autopsy with no visible tracheal rings. In addition, all had vertebral anomalies, including cervical, thoracic, and lumbar fusion, and sacrococcygeal eversion was also present in 2 cases. (less)
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Pathogenic
(Aug 01, 2005)
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no assertion criteria provided
Method: literature only
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ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000034457.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 12, 2018 |
Comment on evidence:
Cohen (1993) defined 3 clinical subtypes of Pfeiffer syndrome (101600). Type I is the common 'classic' type, presenting with craniosynostosis and broad thumbs and first … (more)
Cohen (1993) defined 3 clinical subtypes of Pfeiffer syndrome (101600). Type I is the common 'classic' type, presenting with craniosynostosis and broad thumbs and first toes in patients with normal or near-normal intelligence. Soft tissue syndactyly, symphalangism, and elbow ankylosis may be present. This condition is compatible with survival and reproduction; thus it frequently is familial, inherited as an autosomal dominant. Pfeiffer syndrome type II is more severe than type I, presenting with cloverleaf skull due to pansynostosis, severe ocular proptosis, and central nervous system involvement; a variety of low-frequency abnormalities, such as intestinal malrotation and tracheal stenosis also occur in this disorder. Elbow ankylosis occurs with the highest frequency in this type. Because of early death and failure to reproduce, this phenotype has been observed only as a sporadic mutation. Similarly severely affected cases, but without cloverleaf skull, have been called Pfeiffer syndrome type III. Gripp et al. (1998) found a ser351-to-cys (S351C) mutation in the FGFR2 gene in a patient considered to have Pfeiffer syndrome type III. The patient had pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal nonrotation, and severe developmental delay. Skeletal abnormalities included bilateral elbow ankylosis, radial head dislocation, and unilateral broad and deviated first toe. The patient was unusual for the lack of broad thumbs. The patient most closely resembled one described by Kerr et al. (1996) as a case of Pfeiffer syndrome type III with normal thumbs. In a note added in proof, Gripp et al. (1998) stated that heterozygosity for a cys342-to-arg substitution (176943.0002) of the FGFR2 gene had been found in the patient reported by Kerr et al. (1996). Thus Pfeiffer syndrome appears to be heterogeneous. Okajima et al. (1999) evaluated 3 unrelated patients with severe Crouzon or Pfeiffer syndrome. Two of them had ocular findings consistent with Peters anomaly, and the third patient had opaque corneae, thickened irides and ciliary bodies, and shallow anterior chambers with occluded angles. Craniosynostosis with and without cloverleaf skull deformity, large anterior fontanel, hydrocephalus, proptosis, depressed nasal bridge, choanal stenosis/atresia, midface hypoplasia, and elbow contractures were also present. These patients had airway compromise and seizures, and 2 died by age 15 months. All 3 cases were found to have the same FGFR2 S351C (1231C-to-G) mutation predicted to form an aberrant disulfide bond(s) and affect ligand binding. Seven patients with isolated Peters anomaly, 2 patients with Peters plus syndrome, and 3 cases of typical Antley-Bixler syndrome were screened for this mutation, but none was found. In a patient with clinical manifestations that they found consistent with those of Antley-Bixler syndrome (ABS2; 207410), Chun et al. (1998) identified a heterozygous C-to-G transversion at nucleotide 1064 of the FGFR2 gene, resulting in an S351C substitution in the IgIII domain of the protein. In addition to craniosynostosis and elbow ankylosis, the patient presented with severe spinal dysraphism. Gorlin (1999) and Gripp et al. (1999) suggested that the patient of Chun et al. (1998) did not have Antley-Bixler syndrome but a nonspecific craniosynostosis syndrome. Chitayat and Chun (1999) in response reiterated the importance of looking for a mutation in the FGFR2 gene prior to informing parents that the recurrence risk of a similar condition is 25%. In 3 patients with Antley-Bixler syndrome, Reardon et al. (2000) identified the S351C substitution in the FGFR2 gene. The patients all had normal-appearing genitalia, and the steroid profile was normal in the 2 patients in whom it was carried out. In 3 fetuses diagnosed prenatally with severe Pfeiffer syndrome, Gonzales et al. (2005) identified heterozygosity for the S351C substitution in the FGFR2 gene. All 3 patients had a cartilaginous tracheal sleeve at autopsy with no visible tracheal rings. In addition, all had vertebral anomalies, including cervical, thoracic, and lumbar fusion, and sacrococcygeal eversion was also present in 2 cases. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971068.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Pathogenic
(Dec 01, 2021)
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no assertion criteria provided
Method: clinical testing
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Pfeiffer syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Human Genetics Unit, University Of Colombo
Accession: SCV002558846.1
First in ClinVar: Aug 15, 2022 Last updated: Aug 15, 2022 |
Clinical Features:
Proptosis (present) , Elbow flexion contracture (present) , Low-set ears (present) , Hypoplasia of the maxilla (present) , Dolichocephaly (present) , Wide anterior fontanel (present) … (more)
Proptosis (present) , Elbow flexion contracture (present) , Low-set ears (present) , Hypoplasia of the maxilla (present) , Dolichocephaly (present) , Wide anterior fontanel (present) , Craniosynostosis syndrome (present) (less)
Age: 0-9 years
Sex: female
Geographic origin: Sri Lanka
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Pathogenic
(Sep 04, 2024)
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no assertion criteria provided
Method: clinical testing
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FGFR2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV005361514.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The FGFR2 c.1052C>G variant is predicted to result in the amino acid substitution p.Ser351Cys. This variant has been well documented to be pathogenic for Pfeiffer … (more)
The FGFR2 c.1052C>G variant is predicted to result in the amino acid substitution p.Ser351Cys. This variant has been well documented to be pathogenic for Pfeiffer syndrome (Gripp et al. 1998. PubMed ID: 9714439; Chokdeemboon et al. 2013. PubMed ID: 23348274; Nur BG et al 2014. PubMed ID: 24656465). It was also found in patients with Antley-Bixler and Beare-Stevenson syndromes (Roscioli et al. 2013. PubMed ID: 24127277). Additionally, this variant was documented in the de novo state in a fetus with Apert syndrome (Table S2. Fu et al. 2022. PubMed ID: 36307859). This variant is interpreted as pathogenic by multiple outside laboratories (https://www.ncbi.nlm.nih.gov/clinvar/variation/13286/). This variant has not been reported in gnomAD, indicating it is rare. Taken together, this variant is interpreted as pathogenic. (less)
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Pathogenic
(May 13, 2021)
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no assertion criteria provided
Method: clinical testing
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Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Affected status: yes
Allele origin:
de novo
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Pediatric Genetics Clinic, Sheba Medical Center
Accession: SCV001712177.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Clinical Features:
Hydrocephalus (present) , Myelomeningocele (present) , Abnormal facial shape (present) , Atresia of the external auditory canal (present) , Dysplastic sacrum (present)
Secondary finding: no
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952131.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. | Nur BG | Pediatric neurology | 2014 | PMID: 24656465 |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome. | Chokdeemboon C | The Journal of craniofacial surgery | 2013 | PMID: 23348274 |
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. | Lajeunie E | European journal of human genetics : EJHG | 2006 | PMID: 16418739 |
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. | Gonzales M | Clinical genetics | 2005 | PMID: 15996217 |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? | Reardon W | Journal of medical genetics | 2000 | PMID: 10633130 |
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. | Okajima K | American journal of medical genetics | 1999 | PMID: 10406670 |
Not Antley-Bixler syndrome. | Gripp KW | American journal of medical genetics | 1999 | PMID: 10076887 |
Patient described by Chun et al. may not present Antley-Bixler syndrome. | Gorlin RJ | American journal of medical genetics | 1999 | PMID: 10076886 |
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. | Gripp KW | American journal of medical genetics | 1998 | PMID: 9714439 |
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. | Chun K | American journal of medical genetics | 1998 | PMID: 9605588 |
Type 3 Pfeiffer syndrome with normal thumbs. | Kerr NC | American journal of medical genetics | 1996 | PMID: 8958319 |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. | Pulleyn LJ | European journal of human genetics : EJHG | 1996 | PMID: 8946174 |
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. | Cohen MM Jr | American journal of medical genetics | 1993 | PMID: 8434615 |
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Text-mined citations for rs121918502 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.