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NM_000141.5(FGFR2):c.940-2A>G AND Pfeiffer syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Mar 26, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000415479.4

Allele description

NM_000141.5(FGFR2):c.940-2A>G

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.940-2A>G
HGVS:
  • NC_000010.11:g.121517465T>C
  • NG_012449.2:g.85994A>G
  • NM_000141.5:c.940-2A>GMANE SELECT
  • NM_001144913.1:c.1087+1217A>G
  • NM_001144914.1:c.749-2146A>G
  • NM_001144915.2:c.673-2A>G
  • NM_001144916.2:c.595-2A>G
  • NM_001144917.2:c.939+2514A>G
  • NM_001144918.2:c.595-2A>G
  • NM_001144919.2:c.820+1217A>G
  • NM_001320654.2:c.256-2A>G
  • NM_001320658.2:c.940-2A>G
  • NM_022970.4:c.1087+1217A>G
  • NM_023029.2:c.673-2A>G
  • LRG_994t1:c.940-2A>G
  • LRG_994:g.85994A>G
  • NC_000010.10:g.123276979T>C
  • NM_000141.4:c.940-2A>G
Links:
dbSNP: rs1057519041
NCBI 1000 Genomes Browser:
rs1057519041
Molecular consequence:
  • NM_001144913.1:c.1087+1217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144914.1:c.749-2146A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144917.2:c.939+2514A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144919.2:c.820+1217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022970.4:c.1087+1217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000141.5:c.940-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001144915.2:c.673-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001144916.2:c.595-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001144918.2:c.595-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001320654.2:c.256-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001320658.2:c.940-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_023029.2:c.673-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Pfeiffer syndrome (ACS5)
Synonyms:
ACS V; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5
Identifiers:
MONDO: MONDO:0007043; MedGen: C0220658; Orphanet: 710; OMIM: 101600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000328382Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Pathogenic
(Sep 17, 2016) 		germlineclinical testing

Citation Link,

SCV000996314Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre
no assertion criteria provided
Pathogenic
(Mar 14, 2014) 		de novoresearch

SCV004807327Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 26, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not 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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000328382.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre, SCV000996314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not provideddiscovery1not providednot providednot provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807327.1

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

Last Updated: Apr 6, 2024