U.S. flag

An official website of the United States government

NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) AND Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2000
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:
RCV000014183.19

Allele description [Variation Report for NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)]

NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)

Gene:
FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)
HGVS:
  • NC_000010.11:g.121517379A>T
  • NG_012449.2:g.86080T>A
  • NM_000141.5:c.1024T>AMANE SELECT
  • NM_001144913.1:c.1087+1303T>A
  • NM_001144914.1:c.749-2060T>A
  • NM_001144915.2:c.757T>A
  • NM_001144916.2:c.679T>A
  • NM_001144917.2:c.939+2600T>A
  • NM_001144918.2:c.679T>A
  • NM_001144919.2:c.820+1303T>A
  • NM_001320654.2:c.340T>A
  • NM_001320658.2:c.1024T>A
  • NM_022970.4:c.1087+1303T>A
  • NM_023029.2:c.757T>A
  • NP_000132.3:p.Cys342Ser
  • NP_000132.3:p.Cys342Ser
  • NP_001138387.1:p.Cys253Ser
  • NP_001138388.1:p.Cys227Ser
  • NP_001138390.1:p.Cys227Ser
  • NP_001307583.1:p.Cys114Ser
  • NP_001307587.1:p.Cys342Ser
  • NP_075418.1:p.Cys253Ser
  • LRG_994t1:c.1024T>A
  • LRG_994:g.86080T>A
  • LRG_994p1:p.Cys342Ser
  • NC_000010.10:g.123276893A>T
  • NM_000141.4:c.1024T>A
  • NR_073009.2:n.1460T>A
  • P21802:p.Cys342Ser
  • p.[Cys342Ser]
Protein change:
C114S; CYS342SER
Links:
UniProtKB: P21802#VAR_004138; OMIM: 176943.0003; dbSNP: rs121918488
NCBI 1000 Genomes Browser:
rs121918488
Molecular consequence:
  • NM_001144913.1:c.1087+1303T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144914.1:c.749-2060T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144917.2:c.939+2600T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144919.2:c.820+1303T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022970.4:c.1087+1303T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000141.5:c.1024T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.757T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.679T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.679T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.340T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.1024T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.757T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.1460T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2)
Synonyms:
Antley-Bixler Syndrome, Autosomal Dominant; Trapezoidocephaly synostosis syndrome; Multisynostotic osteodysgenesis with long bone fractures; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0020667; MedGen: C2936791; Orphanet: 83; OMIM: 207410

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034431OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2000) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.

Nat Genet. 1994 Sep;8(1):98-103.

PubMed [citation]
PMID:
7987400

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA.

Hum Genet. 1997 Nov;101(1):47-50.

PubMed [citation]
PMID:
9385368
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000034431.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In a sporadic case of Crouzon syndrome (123500), Reardon et al. (1994) found a T-to-A transversion at nucleotide 1036 (the same as that involved in the cys342-to-arg mutation), predicting substitution of serine for cysteine (C342S). This mutation created a new restriction site which was not found in the unaffected parents. This same mutation was found in Jackson-Weiss syndrome (123150) by Tartaglia et al. (1997). The molecular basis for the phenotypic heterogeneity in the face of apparent genetic homogeneity is unclear.

In a patient with an 'extreme' Antley-Bixler phenotype (ABS2; 207410), Reardon et al. (2000) identified the C342S substitution in the FGFR2 gene. The patient had normal female genitalia and a normal steroid profile.

In a 15-year-old girl with Crouzon-like craniosynostosis and 46,XY complete gonadal dysgenesis, Bagheri-Fam et al. (2015) sequenced the candidate gene FGFR2 and identified heterozygosity for the C342S mutation. DNA from her parents was unavailable for study. Whole-exome sequencing to search for potential modifier variants influencing the proband's phenotype revealed single-nucleotide variants or indels in 193 genes. Bagheri-Fam et al. (2015) noted that although none of the changes were located in 63 genes associated with disorders of sex development, the patient did carry novel changes or indels in 35 genes that in mice are expressed in pre-Sertoli cells at the time of sex determination.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024