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NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000762802.3

Allele description [Variation Report for NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)]

NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)

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.1013G>A (p.Gly338Glu)
HGVS:
  • NC_000010.11:g.121517390C>T
  • NG_012449.2:g.86069G>A
  • NM_000141.5:c.1013G>AMANE SELECT
  • NM_001144913.1:c.1087+1292G>A
  • NM_001144914.1:c.749-2071G>A
  • NM_001144915.2:c.746G>A
  • NM_001144916.2:c.668G>A
  • NM_001144917.2:c.939+2589G>A
  • NM_001144918.2:c.668G>A
  • NM_001144919.2:c.820+1292G>A
  • NM_001320654.2:c.329G>A
  • NM_001320658.2:c.1013G>A
  • NM_022970.4:c.1087+1292G>A
  • NM_023029.2:c.746G>A
  • NP_000132.3:p.Gly338Glu
  • NP_000132.3:p.Gly338Glu
  • NP_001138387.1:p.Gly249Glu
  • NP_001138388.1:p.Gly223Glu
  • NP_001138390.1:p.Gly223Glu
  • NP_001307583.1:p.Gly110Glu
  • NP_001307587.1:p.Gly338Glu
  • NP_075418.1:p.Gly249Glu
  • LRG_994t1:c.1013G>A
  • LRG_994:g.86069G>A
  • LRG_994p1:p.Gly338Glu
  • NC_000010.10:g.123276904C>T
  • NM_000141.4:c.1013G>A
  • NR_073009.2:n.1449G>A
  • p.[Gly338Glu]
Protein change:
G110E
Links:
dbSNP: rs1057519044
NCBI 1000 Genomes Browser:
rs1057519044
Molecular consequence:
  • NM_001144913.1:c.1087+1292G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144914.1:c.749-2071G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144917.2:c.939+2589G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144919.2:c.820+1292G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022970.4:c.1087+1292G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000141.5:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.1449G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Acrocephalosyndactyly type I (ACS1)
Synonyms:
Apert syndrome; Acrocephalo-syndactyly type 1; ACS 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007041; MedGen: C0001193; Orphanet: 87; OMIM: 101200
Name:
Beare-Stevenson cutis gyrata syndrome (BSTVS)
Synonyms:
Cutis Gyrata syndrome of Beare and Stevenson
Identifiers:
MONDO: MONDO:0007412; MedGen: C1852406; Orphanet: 1555; OMIM: 123790
Name:
Jackson-Weiss syndrome (JWS)
Synonyms:
Craniosynostosis, midfacial hypoplasia, and foot abnormalities
Identifiers:
MONDO: MONDO:0007400; MedGen: C0795998; Orphanet: 1540; OMIM: 123150
Name:
Levy-Hollister syndrome (LADD)
Synonyms:
LADD syndrome
Identifiers:
MONDO: MONDO:0007872; MedGen: C0265269; Orphanet: 2363; OMIM: PS149730
Name:
Pfeiffer syndrome (ACS5)
Synonyms:
ACS V; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5
Identifiers:
MONDO: MONDO:0007043; MedGen: C0220658; Orphanet: 710; OMIM: 101600
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
Name:
Crouzon syndrome
Synonyms:
CRANIOFACIAL DYSOSTOSIS, TYPE I; Crouzon craniofacial dysostosis; Crouzon disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007405; MeSH: D003394; MedGen: C0010273; Orphanet: 207; OMIM: 123500; Human Phenotype Ontology: HP:0004439
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
Name:
Familial scaphocephaly syndrome, McGillivray type
Synonyms:
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Identifiers:
MONDO: MONDO:0012307; MedGen: C1865070; Orphanet: 168624; OMIM: 609579
Name:
Neoplasm of stomach
Synonyms:
Neoplasm of the stomach; Gastric neoplasm; Stomach Neoplasms
Identifiers:
MONDO: MONDO:0021085; MedGen: C0038356; Human Phenotype Ontology: HP:0006753
Name:
Bent bone dysplasia syndrome 1 (BBDS1)
Synonyms:
FGFR2-related bent bone dysplasia
Identifiers:
MONDO: MONDO:0013815; MedGen: C3281247; Orphanet: 313855; OMIM: 614592

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893152Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 31, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893152.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024