NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) AND Pfeiffer syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV000240846.1

Allele description [Variation Report for NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet)]

NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet)

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.864_881del (p.Ile288_Val294delinsMet)

Other names:

864-881del

HGVS:

NC_000010.11:g.121520038_121520055del
NG_012449.2:g.83405_83422del
NM_000141.5:c.864_881delMANE SELECT
NM_001144913.1:c.864_881del
NM_001144914.1:c.749-4735_749-4718del
NM_001144915.2:c.597_614del
NM_001144916.2:c.519_536del
NM_001144917.2:c.864_881del
NM_001144918.2:c.519_536del
NM_001144919.2:c.597_614del
NM_001320654.2:c.180_197del
NM_001320658.2:c.864_881del
NM_022969.1:c.863_880del18
NM_022970.4:c.863_880del18
NM_023029.2:c.597_614del
NP_000132.3:p.Ile288_Val294delinsMet
NP_000132.3:p.Ile288_Val294delinsMet
NP_001138385.1:p.Ile288_Val294delinsMet
NP_001138387.1:p.Ile199_Val205delinsMet
NP_001138388.1:p.Ile173_Val179delinsMet
NP_001138389.1:p.Ile288_Val294delinsMet
NP_001138390.1:p.Ile173_Val179delinsMet
NP_001138391.1:p.Ile199_Val205delinsMet
NP_001307583.1:p.Ile60_Val66delinsMet
NP_001307587.1:p.Ile288_Val294delinsMet
NP_075258.1:p.Ile288_Val294delinsMet
NP_075259.4:p.Ile288_Val294delinsMet
NP_075259.4:p.Ile288_Val294delinsMet
NP_075418.1:p.Ile199_Val205delinsMet
LRG_994t1:c.863_880del18
LRG_994t2:c.864_881del
LRG_994:g.83405_83422del
LRG_994p1:p.Ile288_Val294delinsMet
LRG_994p2:p.Ile288_Val294delinsMet
NC_000010.10:g.123279552_123279569del
NM_000141.4:c.863_880del18
NM_022970.3:c.864_881del
NR_073009.2:n.1152_1169del

Links:

dbSNP: rs886037837

NCBI 1000 Genomes Browser:

rs886037837

Molecular consequence:

NM_000141.5:c.864_881del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144913.1:c.864_881del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144915.2:c.597_614del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144916.2:c.519_536del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144917.2:c.864_881del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144918.2:c.519_536del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144919.2:c.597_614del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001320654.2:c.180_197del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001320658.2:c.864_881del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_022969.1:c.863_880del18 - inframe_indel - [Sequence Ontology: SO:0001820]
NM_022970.4:c.863_880del18 - inframe_indel - [Sequence Ontology: SO:0001820]
NM_023029.2:c.597_614del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001144914.1:c.749-4735_749-4718del - intron variant - [Sequence Ontology: SO:0001627]
NR_073009.2:n.1152_1169del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292256	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no assertion criteria provided	Pathogenic	de novo	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

SCV000292256

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no assertion criteria provided

Pathogenic

de novo

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	de novo	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

Cornejo-Roldan LR, Roessler E, Muenke M.

Hum Genet. 1999 May;104(5):425-31.

PubMed [citation]

PMID:: 10394936

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000292256.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 13, 2022

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