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NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 18, 2020
Accession:
VCV000599242.3
Variation ID:
599242
Description:
single nucleotide variant
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NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)

Allele ID
590466
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.1
Genomic location
16: 86567696 (GRCh38) GRCh38 UCSC
16: 86601302 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.86567696C>T
NC_000016.9:g.86601302C>T
NM_005251.3:c.361C>T MANE Select NP_005242.1:p.Arg121Cys missense
... more HGVS
Protein change
R121C
Other names
-
Canonical SPDI
NC_000016.10:86567695:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602402.0014
dbSNP: rs1567571184
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter May 10, 2019 RCV000735835.2
Likely pathogenic 1 criteria provided, single submitter Feb 18, 2020 RCV001289872.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FOXC2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
41 109
FOXC2-AS1 - - - GRCh38 - 42

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 10, 2019)
criteria provided, single submitter
Method: clinical testing
Distichiasis-lymphedema syndrome
Allele origin: de novo
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University
Accession: SCV001190559.1
Submitted: (Mar 04, 2020)
Evidence details
Likely pathogenic
(Feb 18, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001477871.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The FOXC2 c.361C>T; p.Arg121Cys variant is reported in the literature in several individuals affected with primary lymphedema (Lyons 2017, Sargent 2014, van Steensel 2009). This … (more)
Pathogenic
(Jan 02, 2019)
no assertion criteria provided
Method: literature only
LYMPHEDEMA-DISTICHIASIS SYNDROME
Allele origin: germline
OMIM
Accession: SCV000863987.1
Submitted: (Jan 02, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Novel missense mutations in the FOXC2 gene alter transcriptional activity. van Steensel MA Human mutation 2009 PMID: 19760751

Text-mined citations for rs1567571184...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 30, 2021