NM_001453.3(FOXC1):c.587_638del (p.Pro196fs) AND not provided

Germline classification:: Uncertain significance (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:: RCV001354281.1

Allele description [Variation Report for NM_001453.3(FOXC1):c.587_638del (p.Pro196fs)]

NM_001453.3(FOXC1):c.587_638del (p.Pro196fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

6p25.3

Genomic location:

Preferred name:

NM_001453.3(FOXC1):c.587_638del (p.Pro196fs)

HGVS:

NC_000006.12:g.1611032_1611083del
NG_009368.1:g.5587_5638del
NM_001453.3:c.587_638delMANE SELECT
NP_001444.2:p.Pro196fs
LRG_1245t1:c.587_638del
LRG_1245:g.5587_5638del
LRG_1245p1:p.Pro196fs
NC_000006.11:g.1611267_1611318del

Protein change:

P196fs

Links:

dbSNP: rs2113112074

NCBI 1000 Genomes Browser:

rs2113112074

Molecular consequence:

NM_001453.3:c.587_638del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001548859	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001548859

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001548859.1

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

Description

The FOXC1 p.Arg199_Gly215del variant was not identified in the literature nor was it identified in dbSNP, ClinVar, Cosmic or LOVD 3.0. The variant was identified in control databases in 1 of 149950 chromosomes at a frequency of 0.000007 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the Latino population in 1 of 23462 chromosomes (freq: 0.000043) but was not observed in the African, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Other or South Asian populations. This variant is an in-frame deletion resulting in the removal of codons 199 to 215; the impact of this alteration on FOXC1 protein function is not known. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Dec 24, 2023

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