NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 24, 2014
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:: RCV000173256.4

Allele description [Variation Report for NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)]

NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)

Gene:

FOXC1:forkhead box C1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.3

Genomic location:

Preferred name:

NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)

HGVS:

NC_000006.12:g.1610833C>T
NG_009368.1:g.5388C>T
NM_001453.3:c.388C>TMANE SELECT
NP_001444.2:p.Leu130Phe
LRG_1245t1:c.388C>T
LRG_1245:g.5388C>T
LRG_1245p1:p.Leu130Phe
NC_000006.11:g.1611068C>T
NM_001453.2:c.388C>T
Q12948:p.Leu130Phe

Protein change:

L130F; LEU130PHE

Links:

UniProtKB: Q12948#VAR_058730; OMIM: 601090.0010; dbSNP: rs121909338

NCBI 1000 Genomes Browser:

rs121909338

Molecular consequence:

NM_001453.3:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224352	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Nov 24, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17197537, 17210863 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224352

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Nov 24, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

Strungaru MH, Dinu I, Walter MA.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):228-37.

PubMed [citation]

PMID:: 17197537

Analyses of a novel L130F missense mutation in FOXC1.

Ito YA, Footz TK, Murphy TC, Courtens W, Walter MA.

Arch Ophthalmol. 2007 Jan;125(1):128-35.

PubMed [citation]

PMID:: 17210863

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224352.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Sep 29, 2024

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