NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jan 1, 2023
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:: RCV002298724.14

Allele description [Variation Report for NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)]

NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)

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.755C>T (p.Ser252Leu)

Other names:

NM_000141.4:c.755C>T(p.Ser252Leu); NM_001144913.1:c.755C>T(p.Ser252Leu); NM_001144915.1:c.488C>T(p.Ser163Leu); NM_001144916.1:c.410C>T(p.Ser137Leu); NM_001144917.1:c.755C>T(p.Ser252Leu); NM_001144918.1:c.410C>T(p.Ser137Leu); NM_001144919.1:c.488C>T(p.Ser163Leu); NM_022970.3:c.755C>T(p.Ser252Leu); NM_023029.2:c.488C>T(p.Ser163Leu)

HGVS:

NC_000010.11:g.121520163G>A
NG_012449.2:g.83296C>T
NM_000141.5:c.755C>TMANE SELECT
NM_001144913.1:c.755C>T
NM_001144914.1:c.749-4844C>T
NM_001144915.2:c.488C>T
NM_001144916.2:c.410C>T
NM_001144917.2:c.755C>T
NM_001144918.2:c.410C>T
NM_001144919.2:c.488C>T
NM_001320654.2:c.71C>T
NM_001320658.2:c.755C>T
NM_022969.1:c.755C>T
NM_022970.4:c.755C>T
NM_023029.2:c.488C>T
NP_000132.3:p.Ser252Leu
NP_000132.3:p.Ser252Leu
NP_001138385.1:p.Ser252Leu
NP_001138387.1:p.Ser163Leu
NP_001138388.1:p.Ser137Leu
NP_001138389.1:p.Ser252Leu
NP_001138390.1:p.Ser137Leu
NP_001138391.1:p.Ser163Leu
NP_001307583.1:p.Ser24Leu
NP_001307587.1:p.Ser252Leu
NP_075258.1:p.Ser252Leu
NP_075259.4:p.Ser252Leu
NP_075259.4:p.Ser252Leu
NP_075418.1:p.Ser163Leu
LRG_994t1:c.755C>T
LRG_994t2:c.755C>T
LRG_994:g.83296C>T
LRG_994p1:p.Ser252Leu
LRG_994p2:p.Ser252Leu
NC_000010.10:g.123279677G>A
NM_000141.4:c.755C>T
NM_000141.5:c.755C>T
NM_022970.3:c.755C>T
NR_073009.2:n.1043C>T

Protein change:

S137L

Links:

dbSNP: rs79184941

NCBI 1000 Genomes Browser:

rs79184941

Molecular consequence:

NM_001144914.1:c.749-4844C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000141.5:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001144913.1:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001144915.2:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001144916.2:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001144917.2:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001144918.2:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001144919.2:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001320654.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001320658.2:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022969.1:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022970.4:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_023029.2:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_073009.2:n.1043C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

uncharacterized protein LOC120092507 [Benincasa hispida]
uncharacterized protein LOC120092507 [Benincasa hispida]
gi|1955834885|ref|XP_038906531.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002588317	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 14, 2022)	germline	clinical testing	Citation Link,
SCV004134775	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002588317

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 14, 2022)

germline

clinical testing

Citation Link,

SCV004134775

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002588317.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported in individuals with Crouzon syndrome, inherited from apparently unaffected parents (Oldridge et al., 1997; Ohishi et al., 2017); Reported in a family where affected members had severe syndactyly without craniosynostosis and harbored a second FGFR2 variant in cis with p.(S252L) (Wilkie et al., 2002).; 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: 15282208, 15840724, 9700203, 26003532, 17621648, 9300656, 27683237, 32908727, 31348830, 9002682, 12357470, 29037998, 20301628)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004134775.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

FGFR2: BS1

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine